Canonical Allele Identifier: CA022393
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 142283
dbSNP Id: rs374078532
gnomAD v2: 19-1226512-G-A
gnomAD v3: 19-1226513-G-A
gnomAD v4: 19-1226513-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226513G>A , CM000681.2:g.1226513G>A GRCh38
NC_000019.9:g.1226512G>A , CM000681.1:g.1226512G>A GRCh37
NC_000019.8:g.1177512G>A NCBI36
NG_007460.2:g.42107G>A , LRG_319:g.42107G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2769G>A ENSP00000490268.2:n.*2769G>A
ENST00000585748.3:c.796G>A ENSP00000477641.2:p.Val266Met
ENST00000585851.2:c.994G>A ENSP00000467912.2:p.Val332Met
ENST00000326873.12:c.1168G>A MANE Select ENSP00000324856.6:p.Val390Met
ENST00000326873.11:c.1168G>A ENSP00000324856.6:p.Val390Met
ENST00000585465.2:n.2901G>A
ENST00000586243.5:c.1168G>A ENSP00000467240.2:p.Val390Met
ENST00000589152.5:n.1866G>A
NM_000455.4:c.1168G>A , LRG_319t1:c.1168G>A NP_000446.1:p.Val390Met
XM_005259617.1:c.1163G>A XP_005259674.1:p.Arg388His
XM_011528209.1:c.941G>A XP_011526511.1:p.Arg314His
XM_005259617.3:c.1163G>A XP_005259674.1:p.Arg388His
XM_011528209.2:c.941G>A XP_011526511.1:p.Arg314His
XR_001753738.2:n.1974G>A
XR_001753740.2:n.1944G>A
NM_000455.5:c.1168G>A MANE Select NP_000446.1:p.Val390Met