Canonical Allele Identifier: CA405680214
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1981293
ClinVar RCV Id: RCV002751393
dbSNP Id: rs1196887064

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38572055G>A , CM000681.2:g.38572055G>A GRCh38
NC_000019.9:g.39062695G>A , CM000681.1:g.39062695G>A GRCh37
NC_000019.8:g.43754535G>A NCBI36
NG_008866.1:g.143356G>A , LRG_766:g.143356G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.719G>A
ENST00000688602.1:c.2116G>A
ENST00000689936.1:c.2088G>A
ENST00000359596.8:c.13783G>A MANE Select ENSP00000352608.2:p.Gly4595Ser
ENST00000355481.8:c.13768G>A ENSP00000347667.3:p.Gly4590Ser
ENST00000359596.7:c.13783G>A ENSP00000352608.2:p.Gly4595Ser
ENST00000360985.7:c.13765G>A ENSP00000354254.4:p.Gly4589Ser
ENST00000593677.1:c.243G>A
NM_000540.2:c.13783G>A , LRG_766t1:c.13783G>A NP_000531.2:p.Gly4595Ser
NM_001042723.1:c.13768G>A NP_001036188.1:p.Gly4590Ser
XM_006723317.1:c.13765G>A XP_006723380.1:p.Gly4589Ser
XM_006723319.1:c.13750G>A XP_006723382.1:p.Gly4584Ser
XM_011527204.1:c.13780G>A XP_011525506.1:p.Gly4594Ser
XM_011527205.1:c.13696G>A XP_011525507.1:p.Gly4566Ser
XM_006723317.2:c.13765G>A XP_006723380.1:p.Gly4589Ser
XM_006723319.2:c.13750G>A XP_006723382.1:p.Gly4584Ser
XM_011527205.2:c.13696G>A XP_011525507.1:p.Gly4566Ser
NM_000540.3:c.13783G>A MANE Select NP_000531.2:p.Gly4595Ser
NM_001042723.2:c.13768G>A NP_001036188.1:p.Gly4590Ser