Human (GRCh38.p14)
Description

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

Gene Synonyms

CCO, MHS, MHS1, PPP1R137, RYR

Location

Chromosome 19: 38,433,691-38,595,273 forward strand.

GRCh38:CM000681.2

About this gene

This gene has 14 transcripts (splice variants), 236 orthologues, 5 paralogues and is associated with 16 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000359596.8RYR1-202154005038aaENSP00000352608.2
 
Protein coding
CCDS33011P21817-1 NM_000540.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS ALT2TSL:5
ENST00000355481.8RYR1-201153775033aaENSP00000347667.3
 
Protein coding
CCDS42563P21817-2 -GENCODE basicAPPRIS P4TSL:1
ENST00000713953.1RYR1-214152574993aaENSP00000519246.1
 
Protein coding
--GENCODE basic
ENST00000689936.2RYR1-211151695009aaENSP00000508999.2
 
Protein coding
A0A8I5KSR1 -GENCODE basic
ENST00000713952.1RYR1-213150674927aaENSP00000519245.1
 
Protein coding
--GENCODE basicAPPRIS ALT2
ENST00000594335.6RYR1-205153473068aaENSP00000470927.2
 
Nonsense mediated decay
M0R014 -TSL:1
ENST00000688602.2RYR1-210153224555aaENSP00000510767.2
 
Nonsense mediated decay
A0A8I5KUY6 --
ENST00000593322.2RYR1-203153083845aaENSP00000471404.2
 
Nonsense mediated decay
M0R0S0 -TSL:2
ENST00000599547.7RYR1-207152003059aaENSP00000471601.2
 
Nonsense mediated decay
M0R127 -TSL:2
ENST00000601514.5RYR1-209863No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000596431.5RYR1-206515No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000692547.1RYR1-212654No protein-
 
Retained intron
---
ENST00000594111.1RYR1-204548No protein-
 
Retained intron
--TSL:2
ENST00000600337.1RYR1-208421No protein-
 
Retained intron
--TSL:3