Canonical Allele Identifier: CA023949
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133025
dbSNP Id: rs118204422

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38543816T>C , CM000681.2:g.38543816T>C GRCh38
NC_000019.9:g.39034456T>C , CM000681.1:g.39034456T>C GRCh37
NC_000019.8:g.43726296T>C NCBI36
NG_008866.1:g.115117T>C , LRG_766:g.115117T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000688602.1:c.363T>C
ENST00000689936.1:c.345T>C
ENST00000359596.8:c.11953T>C MANE Select ENSP00000352608.2:p.Trp3985Arg
ENST00000355481.8:c.11938T>C ENSP00000347667.3:p.Trp3980Arg
ENST00000359596.7:c.11953T>C ENSP00000352608.2:p.Trp3985Arg
ENST00000360985.7:c.11935T>C ENSP00000354254.4:p.Trp3979Arg
ENST00000593322.1:c.562T>C
ENST00000594335.5:c.5322T>C
NM_000540.2:c.11953T>C , LRG_766t1:c.11953T>C NP_000531.2:p.Trp3985Arg
NM_001042723.1:c.11938T>C NP_001036188.1:p.Trp3980Arg
XM_006723317.1:c.11935T>C XP_006723380.1:p.Trp3979Arg
XM_006723319.1:c.11920T>C XP_006723382.1:p.Trp3974Arg
XM_011527204.1:c.11950T>C XP_011525506.1:p.Trp3984Arg
XM_011527205.1:c.11953T>C XP_011525507.1:p.Trp3985Arg
XM_006723317.2:c.11935T>C XP_006723380.1:p.Trp3979Arg
XM_006723319.2:c.11920T>C XP_006723382.1:p.Trp3974Arg
XM_011527205.2:c.11953T>C XP_011525507.1:p.Trp3985Arg
NM_000540.3:c.11953T>C MANE Select NP_000531.2:p.Trp3985Arg
NM_001042723.2:c.11938T>C NP_001036188.1:p.Trp3980Arg