Canonical Allele Identifier: CA405662857
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1568558329

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38543818G>C , CM000681.2:g.38543818G>C GRCh38
NC_000019.9:g.39034458G>C , CM000681.1:g.39034458G>C GRCh37
NC_000019.8:g.43726298G>C NCBI36
NG_008866.1:g.115119G>C , LRG_766:g.115119G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000688602.1:c.365G>C
ENST00000689936.1:c.347G>C
ENST00000359596.8:c.11955G>C MANE Select ENSP00000352608.2:p.Trp3985Cys
ENST00000355481.8:c.11940G>C ENSP00000347667.3:p.Trp3980Cys
ENST00000359596.7:c.11955G>C ENSP00000352608.2:p.Trp3985Cys
ENST00000360985.7:c.11937G>C ENSP00000354254.4:p.Trp3979Cys
ENST00000593322.1:c.564G>C
ENST00000594335.5:c.5324G>C
NM_000540.2:c.11955G>C , LRG_766t1:c.11955G>C NP_000531.2:p.Trp3985Cys
NM_001042723.1:c.11940G>C NP_001036188.1:p.Trp3980Cys
XM_006723317.1:c.11937G>C XP_006723380.1:p.Trp3979Cys
XM_006723319.1:c.11922G>C XP_006723382.1:p.Trp3974Cys
XM_011527204.1:c.11952G>C XP_011525506.1:p.Trp3984Cys
XM_011527205.1:c.11955G>C XP_011525507.1:p.Trp3985Cys
XM_006723317.2:c.11937G>C XP_006723380.1:p.Trp3979Cys
XM_006723319.2:c.11922G>C XP_006723382.1:p.Trp3974Cys
XM_011527205.2:c.11955G>C XP_011525507.1:p.Trp3985Cys
NM_000540.3:c.11955G>C MANE Select NP_000531.2:p.Trp3985Cys
NM_001042723.2:c.11940G>C NP_001036188.1:p.Trp3980Cys