Canonical Allele Identifier: CA022340
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 141991
dbSNP Id: rs199973552
gnomAD v2: 19-1226474-C-T
gnomAD v3: 19-1226475-C-T
gnomAD v4: 19-1226475-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226475C>T , CM000681.2:g.1226475C>T GRCh38
NC_000019.9:g.1226474C>T , CM000681.1:g.1226474C>T GRCh37
NC_000019.8:g.1177474C>T NCBI36
NG_007460.2:g.42069C>T , LRG_319:g.42069C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2731C>T ENSP00000490268.2:n.*2731C>T
ENST00000585748.3:c.758C>T ENSP00000477641.2:p.Ala253Val
ENST00000585851.2:c.956C>T ENSP00000467912.2:p.Ala319Val
ENST00000326873.12:c.1130C>T MANE Select ENSP00000324856.6:p.Ala377Val
ENST00000326873.11:c.1130C>T ENSP00000324856.6:p.Ala377Val
ENST00000585465.2:n.2863C>T
ENST00000586243.5:c.1130C>T ENSP00000467240.2:p.Ala377Val
ENST00000589152.5:n.1828C>T
NM_000455.4:c.1130C>T , LRG_319t1:c.1130C>T NP_000446.1:p.Ala377Val
XM_005259617.1:c.1125C>T XP_005259674.1:p.Gly375=
XM_011528209.1:c.903C>T XP_011526511.1:p.Gly301=
XM_005259617.3:c.1125C>T XP_005259674.1:p.Gly375=
XM_011528209.2:c.903C>T XP_011526511.1:p.Gly301=
XR_001753738.2:n.1936C>T
XR_001753740.2:n.1906C>T
NM_000455.5:c.1130C>T MANE Select NP_000446.1:p.Ala377Val