Canonical Allele Identifier: CA044714
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 233233
dbSNP Id: rs773049570
gnomAD v2: 19-1223080-G-A
gnomAD v3: 19-1223081-G-A
gnomAD v4: 19-1223081-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1223081G>A , CM000681.2:g.1223081G>A GRCh38
NC_000019.9:g.1223080G>A , CM000681.1:g.1223080G>A GRCh37
NC_000019.8:g.1174080G>A NCBI36
NG_007460.2:g.38675G>A , LRG_319:g.38675G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.1017G>A ENSP00000490268.2:p.Pro339=
ENST00000585748.3:c.645G>A ENSP00000477641.2:p.Pro215=
ENST00000585851.2:c.843G>A ENSP00000467912.2:p.Pro281=
ENST00000326873.12:c.1017G>A MANE Select ENSP00000324856.6:p.Pro339=
ENST00000652231.1:c.1017G>A ENSP00000498804.1:p.Pro339=
ENST00000326873.11:c.1017G>A ENSP00000324856.6:p.Pro339=
ENST00000586243.5:c.1017G>A ENSP00000467240.2:p.Pro339=
ENST00000589152.5:n.1715G>A
ENST00000591133.2:n.988G>A
NM_000455.4:c.1017G>A , LRG_319t1:c.1017G>A NP_000446.1:p.Pro339=
XM_005259617.1:c.1017G>A XP_005259674.1:p.Pro339=
XM_005259618.3:c.1017G>A XP_005259675.1:p.Pro339=
XM_011528209.1:c.795G>A XP_011526511.1:p.Pro265=
XR_936204.1:n.1793G>A
XM_005259617.3:c.1017G>A XP_005259674.1:p.Pro339=
XM_011528209.2:c.795G>A XP_011526511.1:p.Pro265=
XR_001753738.2:n.1823G>A
XR_001753739.1:n.1823G>A
XR_001753740.2:n.1793G>A
NM_000455.5:c.1017G>A MANE Select NP_000446.1:p.Pro339=