Canonical Allele Identifier: CA024268
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133094
dbSNP Id: rs193922896

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38585959G>T , CM000681.2:g.38585959G>T GRCh38
NC_000019.9:g.39076599G>T , CM000681.1:g.39076599G>T GRCh37
NC_000019.8:g.43768439G>T NCBI36
NG_008866.1:g.157260G>T , LRG_766:g.157260G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1761G>T
ENST00000688602.1:c.3158G>T
ENST00000689936.1:c.3130G>T
ENST00000692547.1:n.218G>T
ENST00000359596.8:c.14825G>T MANE Select ENSP00000352608.2:p.Gly4942Val
ENST00000355481.8:c.14810G>T ENSP00000347667.3:p.Gly4937Val
ENST00000359596.7:c.14825G>T ENSP00000352608.2:p.Gly4942Val
ENST00000360985.7:c.14807G>T ENSP00000354254.4:p.Gly4936Val
NM_000540.2:c.14825G>T , LRG_766t1:c.14825G>T NP_000531.2:p.Gly4942Val
NM_001042723.1:c.14810G>T NP_001036188.1:p.Gly4937Val
XM_006723317.1:c.14807G>T XP_006723380.1:p.Gly4936Val
XM_006723319.1:c.14792G>T XP_006723382.1:p.Gly4931Val
XM_011527204.1:c.14822G>T XP_011525506.1:p.Gly4941Val
XM_011527205.1:c.14738G>T XP_011525507.1:p.Gly4913Val
XM_006723317.2:c.14807G>T XP_006723380.1:p.Gly4936Val
XM_006723319.2:c.14792G>T XP_006723382.1:p.Gly4931Val
XM_011527205.2:c.14738G>T XP_011525507.1:p.Gly4913Val
NM_000540.3:c.14825G>T MANE Select NP_000531.2:p.Gly4942Val
NM_001042723.2:c.14810G>T NP_001036188.1:p.Gly4937Val