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Human (GRCh37.p13)
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.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000355481.4RYR1-001153775033aaENSP00000347667.3
 
Protein coding
CCDS42563O75591 P21817 NM_000540
NM_001042723
NP_000531
NP_001036188
GENCODE basic
ENST00000360985.3RYR1-201153765033aaENSP00000354254.3
 
Protein coding
B4DET7 O75591 P21817
-GENCODE basic
ENST00000359596.3RYR1-010151175038aaENSP00000352608.2
 
Protein coding
CCDS33011B4DET7 O75591 P21817
-GENCODE basic
ENST00000599547.1RYR1-0032200733aaENSP00000471601.1
 
Protein coding
B4DET7 -CDS 5' and 3' incomplete
ENST00000601514.1RYR1-006863287aaENSP00000472497.1
 
Protein coding
M0R2E2 -CDS 5' and 3' incomplete
ENST00000596431.1RYR1-007515171aaENSP00000470848.1
 
Protein coding
M0QZY3 -CDS 5' and 3' incomplete
ENST00000593677.1RYR1-009432144aaENSP00000472126.1
 
Protein coding
--CDS 5' and 3' incomplete
ENST00000594335.1RYR1-0026263886aaENSP00000470927.1
 
Nonsense mediated decay
O75591 -CDS 5' incomplete
ENST00000593322.1RYR1-00884379aaENSP00000471404.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000594111.1RYR1-004548No protein-
 
Retained intron
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ENST00000600337.1RYR1-005421No protein-
 
Retained intron
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Gene-based displays