Canonical Allele Identifier: CA024018
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133043
dbSNP Id: rs193922855

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565218C>T , CM000681.2:g.38565218C>T GRCh38
NC_000019.9:g.39055858C>T , CM000681.1:g.39055858C>T GRCh37
NC_000019.8:g.43747698C>T NCBI36
NG_008866.1:g.136519C>T , LRG_766:g.136519C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000688602.1:c.1294C>T
ENST00000689936.1:c.1276C>T
ENST00000359596.8:c.12884C>T MANE Select ENSP00000352608.2:p.Ala4295Val
ENST00000355481.8:c.12869C>T ENSP00000347667.3:p.Ala4290Val
ENST00000359596.7:c.12884C>T ENSP00000352608.2:p.Ala4295Val
ENST00000360985.7:c.12866C>T ENSP00000354254.4:p.Ala4289Val
ENST00000594335.5:c.6253C>T
NM_000540.2:c.12884C>T , LRG_766t1:c.12884C>T NP_000531.2:p.Ala4295Val
NM_001042723.1:c.12869C>T NP_001036188.1:p.Ala4290Val
XM_006723317.1:c.12866C>T XP_006723380.1:p.Ala4289Val
XM_006723319.1:c.12851C>T XP_006723382.1:p.Ala4284Val
XM_011527204.1:c.12881C>T XP_011525506.1:p.Ala4294Val
XM_011527205.1:c.12884C>T XP_011525507.1:p.Ala4295Val
XM_006723317.2:c.12866C>T XP_006723380.1:p.Ala4289Val
XM_006723319.2:c.12851C>T XP_006723382.1:p.Ala4284Val
XM_011527205.2:c.12884C>T XP_011525507.1:p.Ala4295Val
NM_000540.3:c.12884C>T MANE Select NP_000531.2:p.Ala4295Val
NM_001042723.2:c.12869C>T NP_001036188.1:p.Ala4290Val