Canonical Allele Identifier: CA060685
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1120228
dbSNP Id: rs759500310

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38572262T>C , CM000681.2:g.38572262T>C GRCh38
NC_000019.9:g.39062902T>C , CM000681.1:g.39062902T>C GRCh37
NC_000019.8:g.43754742T>C NCBI36
NG_008866.1:g.143563T>C , LRG_766:g.143563T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.926T>C
ENST00000688602.1:c.2323T>C
ENST00000689936.1:c.2295T>C
ENST00000359596.8:c.13990T>C MANE Select ENSP00000352608.2:p.Cys4664Arg
ENST00000355481.8:c.13975T>C ENSP00000347667.3:p.Cys4659Arg
ENST00000359596.7:c.13990T>C ENSP00000352608.2:p.Cys4664Arg
ENST00000360985.7:c.13972T>C ENSP00000354254.4:p.Cys4658Arg
NM_000540.2:c.13990T>C , LRG_766t1:c.13990T>C NP_000531.2:p.Cys4664Arg
NM_001042723.1:c.13975T>C NP_001036188.1:p.Cys4659Arg
XM_006723317.1:c.13972T>C XP_006723380.1:p.Cys4658Arg
XM_006723319.1:c.13957T>C XP_006723382.1:p.Cys4653Arg
XM_011527204.1:c.13987T>C XP_011525506.1:p.Cys4663Arg
XM_011527205.1:c.13903T>C XP_011525507.1:p.Cys4635Arg
XM_006723317.2:c.13972T>C XP_006723380.1:p.Cys4658Arg
XM_006723319.2:c.13957T>C XP_006723382.1:p.Cys4653Arg
XM_011527205.2:c.13903T>C XP_011525507.1:p.Cys4635Arg
NM_000540.3:c.13990T>C MANE Select NP_000531.2:p.Cys4664Arg
NM_001042723.2:c.13975T>C NP_001036188.1:p.Cys4659Arg