Canonical Allele Identifier: CA024131
Gene: RYR1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12979
dbSNP Id: rs118192167

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580004A>G , CM000681.2:g.38580004A>G GRCh38
NC_000019.8:g.43762484A>G NCBI36
NC_000019.9:g.39070644A>G , CM000681.1:g.39070644A>G GRCh37
NG_008866.1:g.151305A>G , LRG_766:g.151305A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355481.8:c.14372A>G ENSP00000347667.3:p.Tyr4791Cys
ENST00000359596.7:n.14387A>G ENSP00000352608.2:p.Tyr4796Cys
ENST00000360985.7:c.14369A>G ENSP00000354254.4:p.Tyr4790Cys
NM_000540.2:c.14387A>G , LRG_766t1:c.14387A>G NP_000531.2:p.Tyr4796Cys
NM_001042723.1:c.14372A>G VV NP_001036188.1:p.Tyr4791Cys
XM_006723317.1:c.14369A>G XP_006723380.1:p.Tyr4790Cys
XM_006723319.1:c.14354A>G XP_006723382.1:p.Tyr4785Cys
XM_011527204.1:c.14384A>G XP_011525506.1:p.Tyr4795Cys
XM_011527205.1:c.14300A>G XP_011525507.1:p.Tyr4767Cys