Canonical Allele Identifier: CA024159
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93255
dbSNP Id: rs118126378

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580122G>A , CM000681.2:g.38580122G>A GRCh38
NC_000019.9:g.39070762G>A , CM000681.1:g.39070762G>A GRCh37
NC_000019.8:g.43762602G>A NCBI36
NG_008866.1:g.151423G>A , LRG_766:g.151423G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1441G>A
ENST00000688602.1:c.2838G>A
ENST00000689936.1:c.2810G>A
ENST00000359596.8:c.14505G>A MANE Select ENSP00000352608.2:p.Gly4835=
ENST00000355481.8:c.14490G>A ENSP00000347667.3:p.Gly4830=
ENST00000359596.7:c.14505G>A ENSP00000352608.2:p.Gly4835=
ENST00000360985.7:c.14487G>A ENSP00000354254.4:p.Gly4829=
NM_000540.2:c.14505G>A , LRG_766t1:c.14505G>A NP_000531.2:p.Gly4835=
NM_001042723.1:c.14490G>A NP_001036188.1:p.Gly4830=
XM_006723317.1:c.14487G>A XP_006723380.1:p.Gly4829=
XM_006723319.1:c.14472G>A XP_006723382.1:p.Gly4824=
XM_011527204.1:c.14502G>A XP_011525506.1:p.Gly4834=
XM_011527205.1:c.14418G>A XP_011525507.1:p.Gly4806=
XM_006723317.2:c.14487G>A XP_006723380.1:p.Gly4829=
XM_006723319.2:c.14472G>A XP_006723382.1:p.Gly4824=
XM_011527205.2:c.14418G>A XP_011525507.1:p.Gly4806=
NM_000540.3:c.14505G>A MANE Select NP_000531.2:p.Gly4835=
NM_001042723.2:c.14490G>A NP_001036188.1:p.Gly4830=