Canonical Allele Identifier: CA10581014
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 230490
dbSNP Id: rs876658594
gnomAD v2: 19-1223054-C-T
gnomAD v3: 19-1223055-C-T
gnomAD v4: 19-1223055-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1223055C>T , CM000681.2:g.1223055C>T GRCh38
NC_000019.9:g.1223054C>T , CM000681.1:g.1223054C>T GRCh37
NC_000019.8:g.1174054C>T NCBI36
NG_007460.2:g.38649C>T , LRG_319:g.38649C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.991C>T ENSP00000490268.2:p.Arg331Trp
ENST00000585748.3:c.619C>T ENSP00000477641.2:p.Arg207Trp
ENST00000585851.2:c.817C>T ENSP00000467912.2:p.Arg273Trp
ENST00000326873.12:c.991C>T MANE Select ENSP00000324856.6:p.Arg331Trp
ENST00000652231.1:c.991C>T ENSP00000498804.1:p.Arg331Trp
ENST00000326873.11:c.991C>T ENSP00000324856.6:p.Arg331Trp
ENST00000586243.5:c.991C>T ENSP00000467240.2:p.Arg331Trp
ENST00000589152.5:n.1689C>T
ENST00000591133.2:n.962C>T
NM_000455.4:c.991C>T , LRG_319t1:c.991C>T NP_000446.1:p.Arg331Trp
XM_005259617.1:c.991C>T XP_005259674.1:p.Arg331Trp
XM_005259618.3:c.991C>T XP_005259675.1:p.Arg331Trp
XM_011528209.1:c.769C>T XP_011526511.1:p.Arg257Trp
XR_936204.1:n.1767C>T
XM_005259617.3:c.991C>T XP_005259674.1:p.Arg331Trp
XM_011528209.2:c.769C>T XP_011526511.1:p.Arg257Trp
XR_001753738.2:n.1797C>T
XR_001753739.1:n.1797C>T
XR_001753740.2:n.1767C>T
NM_000455.5:c.991C>T MANE Select NP_000446.1:p.Arg331Trp