Canonical Allele Identifier: CA024266
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65927
dbSNP Id: rs118192158

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38585952G>A , CM000681.2:g.38585952G>A GRCh38
NC_000019.9:g.39076592G>A , CM000681.1:g.39076592G>A GRCh37
NC_000019.8:g.43768432G>A NCBI36
NG_008866.1:g.157253G>A , LRG_766:g.157253G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1754G>A
ENST00000688602.1:c.3151G>A
ENST00000689936.1:c.3123G>A
ENST00000692547.1:n.211G>A
ENST00000359596.8:c.14818G>A MANE Select ENSP00000352608.2:p.Ala4940Thr
ENST00000355481.8:c.14803G>A ENSP00000347667.3:p.Ala4935Thr
ENST00000359596.7:c.14818G>A ENSP00000352608.2:p.Ala4940Thr
ENST00000360985.7:c.14800G>A ENSP00000354254.4:p.Ala4934Thr
NM_000540.2:c.14818G>A , LRG_766t1:c.14818G>A NP_000531.2:p.Ala4940Thr
NM_001042723.1:c.14803G>A NP_001036188.1:p.Ala4935Thr
XM_006723317.1:c.14800G>A XP_006723380.1:p.Ala4934Thr
XM_006723319.1:c.14785G>A XP_006723382.1:p.Ala4929Thr
XM_011527204.1:c.14815G>A XP_011525506.1:p.Ala4939Thr
XM_011527205.1:c.14731G>A XP_011525507.1:p.Ala4911Thr
XM_006723317.2:c.14800G>A XP_006723380.1:p.Ala4934Thr
XM_006723319.2:c.14785G>A XP_006723382.1:p.Ala4929Thr
XM_011527205.2:c.14731G>A XP_011525507.1:p.Ala4911Thr
NM_000540.3:c.14818G>A MANE Select NP_000531.2:p.Ala4940Thr
NM_001042723.2:c.14803G>A NP_001036188.1:p.Ala4935Thr