Transcript: ENST00000338546.9 HPS1-202

Description

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [Source:HGNC Symbol;Acc:HGNC:5163]

Gene Synonyms

BLOC3S1, HPS

Location

Chromosome 10: 98,429,151-98,446,913 reverse strand.

About this transcript

This transcript has 10 exons, is annotated with 10 domains and features, is associated with 7399 variant alleles and maps to 327 oligo probes.

Gene

This transcript is a product of gene ENSG00000107521.22 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000361490.9	HPS1-203	3703	700aa	ENSP00000355310.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7475	Q92902-1	NM_000195.5	The Matched Annotation from NCBI and EMBL-EBI is a collaboration between Ensembl/GENCODE and RefSeq. The MANE Select is a default transcript per human gene that is representative of biology, well-supported, expressed and highly-conserved. This transcript set matches GRCh38 and is 100% identical between RefSeq and Ensembl/GENCODE for 5' UTR, CDS, splicing and 3'UTR.MANE Select, A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1, TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1,
ENST00000884317.1	HPS1-269	4013	700aa	ENSP00000554376.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7475	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000699134.1	HPS1-233	3972	786aa	ENSP00000514151.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A8V8TPJ1	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000325103.10	HPS1-201	3703	700aa	ENSP00000326649.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7475	Q92902-1	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1, TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5,
ENST00000699125.1	HPS1-224	3652	710aa	ENSP00000514146.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A8V8TPI6	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000699142.1	HPS1-241	3644	700aa	ENSP00000514159.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7475	Q92902-1	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000699140.1	HPS1-239	3625	667aa	ENSP00000514157.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS91316	Q92902-2	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000884307.1	HPS1-259	3621	700aa	ENSP00000554366.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7475	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000963957.1	HPS1-275	3560	645aa	ENSP00000634016.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000699131.1	HPS1-230	3544	644aa	ENSP00000514149.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A8V8TP64	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000699136.1	HPS1-235	3535	667aa	ENSP00000514153.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS91316	Q92902-2	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000699139.1	HPS1-238	3463	613aa	ENSP00000514156.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS91314	A0A8V8TN94	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000963958.1	HPS1-276	3447	644aa	ENSP00000634017.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000699133.1	HPS1-232	3445	611aa	ENSP00000514150.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A8V8TN90	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000884306.1	HPS1-258	3357	580aa	ENSP00000554365.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS91313	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000699137.1	HPS1-236	3331	571aa	ENSP00000514154.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A8V8TN79	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000699118.1	HPS1-217	3313	571aa	ENSP00000514140.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A8V8TN79	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000699122.1	HPS1-221	3121	509aa	ENSP00000514144.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A8V8TP59	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000884315.1	HPS1-267	2957	667aa	ENSP00000554374.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS91316	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000884316.1	HPS1-268	2934	700aa	ENSP00000554375.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7475	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000884313.1	HPS1-265	2926	700aa	ENSP00000554372.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7475	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000884309.1	HPS1-261	2909	710aa	ENSP00000554368.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000963961.1	HPS1-279	2855	667aa	ENSP00000634020.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS91316	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000914268.1	HPS1-273	2849	688aa	ENSP00000584327.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000884314.1	HPS1-266	2824	667aa	ENSP00000554373.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS91316	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000884318.1	HPS1-270	2812	700aa	ENSP00000554377.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7475	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000963959.1	HPS1-277	2808	688aa	ENSP00000634018.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000914269.1	HPS1-274	2793	678aa	ENSP00000584328.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000914266.1	HPS1-271	2792	688aa	ENSP00000584325.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000963962.1	HPS1-280	2791	714aa	ENSP00000634021.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000884310.1	HPS1-262	2769	667aa	ENSP00000554369.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS91316	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000884308.1	HPS1-260	2557	613aa	ENSP00000554367.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS91314	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000914267.1	HPS1-272	2527	610aa	ENSP00000584326.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000884312.1	HPS1-264	2492	580aa	ENSP00000554371.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS91313	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000884311.1	HPS1-263	2402	571aa	ENSP00000554370.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000699146.1	HPS1-245	2394	663aa	ENSP00000514164.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A8V8TN99	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000963960.1	HPS1-278	2343	523aa	ENSP00000634019.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000338546.9	HPS1-202	1580	324aa	ENSP00000343638.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7476	Q92902-3	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1,
ENST00000414009.2	HPS1-204	1498	291aa	ENSP00000392462.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS91315	H0Y4K4	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:2,
ENST00000699112.1	HPS1-211	4110	580aa	ENSP00000514137.1	Nonsense mediated decay	CCDS91313	A0A8V8TMQ9	-	-
ENST00000699123.1	HPS1-222	3835	122aa	ENSP00000514145.1	Nonsense mediated decay		A0A8V8TN86	-	-
ENST00000699129.1	HPS1-228	3811	291aa	ENSP00000514148.1	Nonsense mediated decay	CCDS91315	H0Y4K4	-	-
ENST00000699128.1	HPS1-227	3705	291aa	ENSP00000514147.1	Nonsense mediated decay	CCDS91315	H0Y4K4	-	-
ENST00000699138.1	HPS1-237	3580	132aa	ENSP00000514155.1	Nonsense mediated decay		A0A0S2Z4H4	-	-
ENST00000699121.1	HPS1-220	3519	136aa	ENSP00000514143.1	Nonsense mediated decay		A0A8V8TMR9	-	-
ENST00000699144.1	HPS1-243	3511	132aa	ENSP00000514161.1	Nonsense mediated decay		A0A0S2Z4H4	-	-
ENST00000699141.1	HPS1-240	3479	132aa	ENSP00000514158.1	Nonsense mediated decay		A0A0S2Z4H4	-	-
ENST00000699143.1	HPS1-242	3478	132aa	ENSP00000514160.1	Nonsense mediated decay		A0A0S2Z4H4	-	-
ENST00000699120.1	HPS1-219	3431	74aa	ENSP00000514142.1	Nonsense mediated decay		A0A8V8TMR7	-	-
ENST00000699119.1	HPS1-218	3352	132aa	ENSP00000514141.1	Nonsense mediated decay		A0A0S2Z4H4	-	-
ENST00000699135.1	HPS1-234	3347	140aa	ENSP00000514152.1	Nonsense mediated decay		A0A8V8TMS4	-	-
ENST00000699113.1	HPS1-212	3307	140aa	ENSP00000514138.1	Nonsense mediated decay		A0A8V8TMS4	-	-
ENST00000699145.1	HPS1-244	3156	700aa	ENSP00000514162.1	Nonsense mediated decay	CCDS7475	Q92902-1	-	-
ENST00000699115.1	HPS1-214	2883	377aa	ENSP00000514139.1	Nonsense mediated decay		A0A8V8TP54	-	-
ENST00000467246.5	HPS1-207	2791	194aa	ENSP00000514163.1	Nonsense mediated decay		A0A8V8TP71	-	TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1,
ENST00000699147.1	HPS1-246	2492	132aa	ENSP00000514165.1	Nonsense mediated decay		A0A0S2Z4H4	-	-
ENST00000699153.1	HPS1-252	1382	132aa	ENSP00000514166.1	Nonsense mediated decay		A0A0S2Z4H4	-	-
ENST00000699114.1	HPS1-213	2823	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	-
ENST00000465957.1	HPS1-206	922	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:2,
ENST00000498219.5	HPS1-210	845	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5,
ENST00000699157.1	HPS1-256	750	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	-
ENST00000699116.1	HPS1-215	5937	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699132.1	HPS1-231	5764	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699126.1	HPS1-225	5450	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699124.1	HPS1-223	4872	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699130.1	HPS1-229	4648	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699117.1	HPS1-216	4121	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699127.1	HPS1-226	3796	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699149.1	HPS1-248	3649	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699152.1	HPS1-251	2874	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699156.1	HPS1-255	2804	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699151.1	HPS1-250	2782	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699155.1	HPS1-254	2626	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699154.1	HPS1-253	1608	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699158.1	HPS1-257	1576	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699148.1	HPS1-247	1563	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000699150.1	HPS1-249	1553	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000478087.5	HPS1-209	971	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5,
ENST00000474873.5	HPS1-208	698	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:2,
ENST00000462743.1	HPS1-205	431	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	TSL 3: A transcript where the only support is from a single EST The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:3,

Summary

Statistics

Exons: 10, Coding exons: 8, Transcript length: 1,580 bps, Translation length: 324 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q92902

CCDS

This transcript is a member of the Human CCDS set: CCDS7476

Transcript Support Level (TSL)

TSL:1

Version

ENST00000338546.9

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

GENCODE primary gene

This transcript is a member of the Gencode Primary gene set.

Transcript: ENST00000338546.9 HPS1-202

Summary

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Transcript: ENST00000338546.9 HPS1-202

Summary

About Us

Get help

Our sister sites

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