Description
ryanodine receptor 1 (skeletal) [Source:HGNC Symbol;Acc:10483]
Gene Synonyms
CCO, MHS, MHS1, RYDR, RYR, RYR-1, SKRR
Location
Chromosome 19: 38,924,339-39,078,204 forward strand.
GRCh37:CM000681.1
About this gene
This gene has 11 transcripts (splice variants), 5 paralogues and is associated with 16 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000355481.4 | RYR1-001 | 15377 | 5033aa | ENSP00000347667.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS42563 | O75591 P21817 | NM_001042723.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000360985.3 | RYR1-201 | 15376 | 5033aa | ENSP00000354254.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DET7 O75591 P21817 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000359596.3 | RYR1-010 | 15117 | 5038aa | ENSP00000352608.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33011 | B4DET7 O75591 P21817 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000599547.1 | RYR1-003 | 2200 | 733aa | ENSP00000471601.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DET7 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000601514.1 | RYR1-006 | 863 | 287aa | ENSP00000472497.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0R2E2 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000596431.1 | RYR1-007 | 515 | 171aa | ENSP00000470848.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0QZY3 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000593677.1 | RYR1-009 | 432 | 144aa | ENSP00000472126.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000594335.1 | RYR1-002 | 6263 | 886aa | ENSP00000470927.1 | Nonsense mediated decay | O75591 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000593322.1 | RYR1-008 | 843 | 79aa | ENSP00000471404.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000594111.1 | RYR1-004 | 548 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000600337.1 | RYR1-005 | 421 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
