Canonical Allele Identifier: CA16616236
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 403773
ClinVar RCV Id: RCV000469875
dbSNP Id: rs587781966
gnomAD v3: 19-1223016-G-A
gnomAD v4: 19-1223016-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1223016G>A , CM000681.2:g.1223016G>A GRCh38
NC_000019.9:g.1223015G>A , CM000681.1:g.1223015G>A GRCh37
NC_000019.8:g.1174015G>A NCBI36
NG_007460.2:g.38610G>A , LRG_319:g.38610G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.952G>A ENSP00000490268.2:p.Ala318Thr
ENST00000585748.3:c.580G>A ENSP00000477641.2:p.Ala194Thr
ENST00000585851.2:c.778G>A ENSP00000467912.2:p.Ala260Thr
ENST00000326873.12:c.952G>A MANE Select ENSP00000324856.6:p.Ala318Thr
ENST00000652231.1:c.952G>A ENSP00000498804.1:p.Ala318Thr
ENST00000326873.11:c.952G>A ENSP00000324856.6:p.Ala318Thr
ENST00000586243.5:c.952G>A ENSP00000467240.2:p.Ala318Thr
ENST00000589152.5:n.1650G>A
ENST00000591133.2:n.923G>A
NM_000455.4:c.952G>A , LRG_319t1:c.952G>A NP_000446.1:p.Ala318Thr
XM_005259617.1:c.952G>A XP_005259674.1:p.Ala318Thr
XM_005259618.3:c.952G>A XP_005259675.1:p.Ala318Thr
XM_011528209.1:c.730G>A XP_011526511.1:p.Ala244Thr
XR_936204.1:n.1728G>A
XM_005259617.3:c.952G>A XP_005259674.1:p.Ala318Thr
XM_011528209.2:c.730G>A XP_011526511.1:p.Ala244Thr
XR_001753738.2:n.1758G>A
XR_001753739.1:n.1758G>A
XR_001753740.2:n.1728G>A
NM_000455.5:c.952G>A MANE Select NP_000446.1:p.Ala318Thr