Canonical Allele Identifier: CA024787
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12972
ClinVar RCV Id: RCV001787733 RCV001787734 RCV001787735 RCV001787736 RCV001787737 RCV001787738 RCV001787739 RCV003390679
dbSNP Id: rs121918594
ExAC: 19:38991295 G / A
gnomAD v2: 19-38991295-G-A
gnomAD v4: 19-38500655-G-A
COSMIC: COSM5471002
MyVariant Identifiers: chr19:g.38991295G>A (hg19) chr19:g.38500655G>A (hg38)
ERepo: CA024787/MONDO:0007783/012
PubMed: PMID:9450902 PMID:16917943 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38500655G>A , CM000681.2:g.38500655G>A GRCh38
NC_000019.9:g.38991295G>A , CM000681.1:g.38991295G>A GRCh37
NC_000019.8:g.43683135G>A NCBI36
NG_008866.1:g.71956G>A , LRG_766:g.71956G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000599547.6:c.7373G>A ENSP00000471601.2:p.Arg2458His
ENST00000359596.8:c.7373G>A MANE Select ENSP00000352608.2:p.Arg2458His
ENST00000355481.8:c.7373G>A ENSP00000347667.3:p.Arg2458His
ENST00000359596.7:c.7373G>A ENSP00000352608.2:p.Arg2458His
ENST00000360985.7:c.7370G>A ENSP00000354254.4:p.Arg2457His
ENST00000594335.5:c.825G>A
NM_000540.2:c.7373G>A , LRG_766t1:c.7373G>A NP_000531.2:p.Arg2458His
NM_001042723.1:c.7373G>A NP_001036188.1:p.Arg2458His
XM_006723317.1:c.7373G>A XP_006723380.1:p.Arg2458His
XM_006723319.1:c.7373G>A XP_006723382.1:p.Arg2458His
XM_011527204.1:c.7370G>A XP_011525506.1:p.Arg2457His
XM_011527205.1:c.7373G>A XP_011525507.1:p.Arg2458His
XM_006723317.2:c.7373G>A XP_006723380.1:p.Arg2458His
XM_006723319.2:c.7373G>A XP_006723382.1:p.Arg2458His
XM_011527205.2:c.7373G>A XP_011525507.1:p.Arg2458His
XR_001753735.1:n.7456G>A
NM_000540.3:c.7373G>A MANE Select NP_000531.2:p.Arg2458His
NM_001042723.2:c.7373G>A NP_001036188.1:p.Arg2458His
Search 100 bp 5'
Search 100 bp 3'