Canonical Allele Identifier: CA024787
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12972
dbSNP Id: rs121918594

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
ENST00000359596.8:c.7373G>A MANE Select ENSP00000352608.2:p.Arg2458His
ENST00000355481.8:c.7373G>A ENSP00000347667.3:p.Arg2458His
ENST00000359596.7:n.7373G>A ENSP00000352608.2:p.Arg2458His
ENST00000360985.7:c.7370G>A ENSP00000354254.4:p.Arg2457His
ENST00000594335.5:n.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