Canonical Allele Identifier: CA024237
Gene: RYR1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 65948
dbSNP Id: rs118192183

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38584992G>A , CM000681.2:g.38584992G>A GRCh38
NC_000019.9:g.39075632G>A , CM000681.1:g.39075632G>A GRCh37
NC_000019.8:g.43767472G>A NCBI36
NG_008866.1:g.156293G>A , LRG_766:g.156293G>A

Transcript Alleles

HGVS Amino-acid change
NM_000540.2:c.14696G>A , LRG_766t1:c.14696G>A NP_000531.2:p.Gly4899Glu
NM_001042723.1:c.14681G>A VV NP_001036188.1:p.Gly4894Glu
XM_006723317.1:c.14678G>A XP_006723380.1:p.Gly4893Glu
XM_006723319.1:c.14663G>A XP_006723382.1:p.Gly4888Glu
XM_011527204.1:c.14693G>A XP_011525506.1:p.Gly4898Glu
XM_011527205.1:c.14609G>A XP_011525507.1:p.Gly4870Glu
XM_006723317.2:c.14678G>A
XM_006723319.2:c.14663G>A
XM_011527205.2:c.14609G>A
ENST00000355481.8:c.14681G>A ENSP00000347667.3:p.Gly4894Glu
ENST00000359596.7:n.14696G>A ENSP00000352608.2:p.Gly4899Glu
ENST00000360985.7:c.14678G>A ENSP00000354254.4:p.Gly4893Glu