Canonical Allele Identifier: CA024662
Gene: RYR1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 133174
dbSNP Id: rs112563513

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499223G>A , CM000681.2:g.38499223G>A GRCh38
NC_000019.9:g.38989863G>A , CM000681.1:g.38989863G>A GRCh37
NC_000019.8:g.43681703G>A NCBI36
NG_008866.1:g.70524G>A , LRG_766:g.70524G>A

Transcript Alleles

HGVS Amino-acid change
NM_000540.2:c.7007G>A , LRG_766t1:c.7007G>A NP_000531.2:p.Arg2336His
NM_001042723.1:c.7007G>A VV NP_001036188.1:p.Arg2336His
XM_006723317.1:c.7007G>A XP_006723380.1:p.Arg2336His
XM_006723319.1:c.7007G>A XP_006723382.1:p.Arg2336His
XM_011527204.1:c.7004G>A XP_011525506.1:p.Arg2335His
XM_011527205.1:c.7007G>A XP_011525507.1:p.Arg2336His
XM_006723317.2:c.7007G>A XP_006723380.1:p.Arg2336His
XM_006723319.2:c.7007G>A XP_006723382.1:p.Arg2336His
XM_011527205.2:c.7007G>A XP_011525507.1:p.Arg2336His
XR_001753735.1:n.7090G>A
ENST00000355481.8:c.7007G>A ENSP00000347667.3:p.Arg2336His
ENST00000359596.7:n.7007G>A ENSP00000352608.2:p.Arg2336His
ENST00000360985.7:c.7004G>A ENSP00000354254.4:p.Arg2335His
ENST00000594335.5:n.459G>A