Description

ryanodine receptor 1 (skeletal) [Source:HGNC Symbol;Acc:HGNC:10483]

Synonyms

CCO, MHS, MHS1, PPP1R137, RYR

Location
Gene

This transcript is a product of gene ENSG00000196218

This gene has 11 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDbpProteinBiotypeCCDSUniProtRefSeqFlags
RYR1-001ENST00000355481153775033 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS42563O75591 P21817 NM_001042723
NP_001036188
TSL:1

TSL1: All splice junctions of the transcript 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CIAPPRIS candidate principal isoform [01-09-2014]
Glossary entry for APPRIS
APPRIS website
RYR1-010ENST00000359596151175038 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS33011B4DET7 O75591 P21817
NM_000540
NP_000531
TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CI2APPRIS candidate principal isoform (longest CCDS) [01-09-2014]
Glossary entry for APPRIS
APPRIS website
RYR1-201ENST00000360985153485032 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-O75591 P21817 -TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CIAPPRIS candidate principal isoform [01-09-2014]
Glossary entry for APPRIS
APPRIS website
RYR1-003ENST000005995472200733 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-B4DET7 -CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.TSL:2

TSL2: 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

RYR1-006ENST00000601514863287 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-M0R2E2 -CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.TSL:3

TSL3:The only support for this transcript 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

RYR1-007ENST00000596431515172 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-M0QZY3 -CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.TSL:3

TSL3:The only support for this transcript 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

RYR1-009ENST00000593677432144 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
---CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.TSL:3

TSL3:The only support for this transcript 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

RYR1-002ENST000005943356263886 aa
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-O75591 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:1

TSL1: All splice junctions of the transcript 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

RYR1-008ENST0000059332284379 aa
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
---CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:2

TSL2: 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

RYR1-004ENST00000594111548No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:2

TSL2: 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

RYR1-005ENST00000600337421No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:3

TSL3:The only support for this transcript 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Statistics

Exons: 107 Coding exons: 107 Transcript length: 15,348 bps Translation length: 5,032 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P21817

Transcript Support Level

5

Ensembl version

ENST00000360985.5

Type

Known protein coding

Prediction Method

Annotation produced by the Ensembl genebuild.

Frameshift introns

Frameshift intronsFrameshift introns are the length of 1, 2, 4, or 5 basepairs. They are introduced by the Ensembl genebuild in order to fit the cDNA sequence to the genome. occur at intron number(s) 28, 29.

GENCODE basic gene

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

Transcript-based displays