Canonical Allele Identifier: CA024976
Gene: RYR1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 133240
dbSNP Id: rs193922832
COSMIC: COSM711601

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38512321G>A , CM000681.2:g.38512321G>A GRCh38
NC_000019.9:g.39002961G>A , CM000681.1:g.39002961G>A GRCh37
NC_000019.8:g.43694801G>A NCBI36
NG_008866.1:g.83622G>A , LRG_766:g.83622G>A

Transcript Alleles

HGVS Amino-acid change
NM_000540.2:c.9310G>A , LRG_766t1:c.9310G>A NP_000531.2:p.Glu3104Lys
NM_001042723.1:c.9310G>A VV NP_001036188.1:p.Glu3104Lys
XM_006723317.1:c.9310G>A XP_006723380.1:p.Glu3104Lys
XM_006723319.1:c.9310G>A XP_006723382.1:p.Glu3104Lys
XM_011527204.1:c.9307G>A XP_011525506.1:p.Glu3103Lys
XM_011527205.1:c.9310G>A XP_011525507.1:p.Glu3104Lys
XM_006723317.2:c.9310G>A XP_006723380.1:p.Glu3104Lys
XM_006723319.2:c.9310G>A XP_006723382.1:p.Glu3104Lys
XM_011527205.2:c.9310G>A XP_011525507.1:p.Glu3104Lys
XR_001753735.1:n.9343G>A
ENST00000355481.8:c.9310G>A ENSP00000347667.3:p.Glu3104Lys
ENST00000359596.7:n.9310G>A ENSP00000352608.2:p.Glu3104Lys
ENST00000360985.7:c.9307G>A ENSP00000354254.4:p.Glu3103Lys
ENST00000594335.5:n.2712G>A
ENST00000599547.5:n.117G>A