Transcript: ENST00000401061.9 MMACHC-201

Description

metabolism of cobalamin associated C [Source:HGNC Symbol;Acc:HGNC:24525]

Gene Synonyms

CBLC, DKFZP564I122

Location

Chromosome 1: 45,500,300-45,513,382 forward strand.

About this transcript

This transcript has 4 exons, is annotated with 28 domains and features, is associated with 6539 variant alleles and maps to 425 oligo probes.

Gene

This transcript is a product of gene ENSG00000132763.15 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000401061.9	MMACHC-201	5049	282aa	ENSP00000383840.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS41324	Q9Y4U1	NM_015506.3	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 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,
ENST00000616135.1	MMACHC-203	1510	225aa	ENSP00000478859.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS81315	A0A0C4DGU2	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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,
ENST00000477188.1	MMACHC-202	607	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	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,

Transcript: ENST00000401061.9 MMACHC-201

Protein summary

Protein domains for ENSP00000383840.4

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Transcript: ENST00000401061.9 MMACHC-201

Protein summary

Protein domains for ENSP00000383840.4

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