Description

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

Synonyms

CCO, MHS, MHS1, PPP1R137, RYR

Location

Chromosome 19: 38,433,699-38,587,564 forward strand.

GRCh38:CM000681.2

About this gene

This gene has 11 transcripts (splice variants), 73 orthologues, 5 paralogues, is a member of 2 Ensembl protein families and is associated with 12 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
RYR1-001ENST00000355481153775033aaENSP00000347667
 
Protein coding
CCDS42563P21817 NM_001042723
NP_001036188
TSL:1GENCODE basicAPPRIS ALT2
RYR1-010ENST00000359596151175038aaENSP00000352608
 
Protein coding
CCDS33011P21817 NM_000540
NP_000531
TSL:5GENCODE basicAPPRIS P3
RYR1-201ENST00000360985153485032aaENSP00000354254
 
Protein coding
-A0A0A0MRH2 -TSL:5GENCODE basicAPPRIS ALT2
RYR1-003ENST000005995472200733aaENSP00000471601
 
Protein coding
-M0R127 -CDS 5' and 3' incompleteTSL:2
RYR1-006ENST00000601514863287aaENSP00000472497
 
Protein coding
-M0R2E2 -CDS 5' and 3' incompleteTSL:3
RYR1-007ENST00000596431515172aaENSP00000470848
 
Protein coding
-M0QZY3 -CDS 5' and 3' incompleteTSL:3
RYR1-009ENST00000593677432144aaENSP00000472126
 
Protein coding
-M0R1U6 -CDS 5' and 3' incompleteTSL:3
RYR1-002ENST000005943356263886aaENSP00000470927
 
Nonsense mediated decay
-M0R014 -CDS 5' incompleteTSL:1
RYR1-008ENST0000059332284379aaENSP00000471404
 
Nonsense mediated decay
-M0R0S0 -CDS 5' incompleteTSL:2
RYR1-004ENST00000594111548No protein-
 
Retained intron
---TSL:2
RYR1-005ENST00000600337421No protein-
 
Retained intron
---TSL:3

Gene-based displays