Canonical Allele Identifier: CA022540
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 182919
dbSNP Id: rs730881991
gnomAD v2: 19-1226596-T-A
gnomAD v4: 19-1226597-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226597T>A , CM000681.2:g.1226597T>A GRCh38
NC_000019.9:g.1226596T>A , CM000681.1:g.1226596T>A GRCh37
NC_000019.8:g.1177596T>A NCBI36
NG_007460.2:g.42191T>A , LRG_319:g.42191T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2853T>A ENSP00000490268.2:n.*2853T>A
ENST00000585748.3:c.880T>A ENSP00000477641.2:p.Cys294Ser
ENST00000585851.2:c.1078T>A ENSP00000467912.2:p.Cys360Ser
ENST00000326873.12:c.1252T>A MANE Select ENSP00000324856.6:p.Cys418Ser
ENST00000326873.11:c.1252T>A ENSP00000324856.6:p.Cys418Ser
ENST00000585465.2:n.2985T>A
ENST00000586243.5:c.1251T>A ENSP00000467240.2:p.Pro417=
ENST00000589152.5:n.1950T>A
NM_000455.4:c.1252T>A , LRG_319t1:c.1252T>A NP_000446.1:p.Cys418Ser
XM_005259617.1:c.1247T>A XP_005259674.1:p.Leu416Gln
XM_011528209.1:c.1025T>A XP_011526511.1:p.Leu342Gln
XM_005259617.3:c.1247T>A XP_005259674.1:p.Leu416Gln
XM_011528209.2:c.1025T>A XP_011526511.1:p.Leu342Gln
XR_001753738.2:n.2058T>A
XR_001753740.2:n.2028T>A
NM_000455.5:c.1252T>A MANE Select NP_000446.1:p.Cys418Ser