Canonical Allele Identifier: CA023399
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 141962
dbSNP Id: rs371264852
gnomAD v2: 19-1223055-G-A
gnomAD v3: 19-1223056-G-A
gnomAD v4: 19-1223056-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1223056G>A , CM000681.2:g.1223056G>A GRCh38
NC_000019.9:g.1223055G>A , CM000681.1:g.1223055G>A GRCh37
NC_000019.8:g.1174055G>A NCBI36
NG_007460.2:g.38650G>A , LRG_319:g.38650G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.992G>A ENSP00000490268.2:p.Arg331Gln
ENST00000585748.3:c.620G>A ENSP00000477641.2:p.Arg207Gln
ENST00000585851.2:c.818G>A ENSP00000467912.2:p.Arg273Gln
ENST00000326873.12:c.992G>A MANE Select ENSP00000324856.6:p.Arg331Gln
ENST00000652231.1:c.992G>A ENSP00000498804.1:p.Arg331Gln
ENST00000326873.11:c.992G>A ENSP00000324856.6:p.Arg331Gln
ENST00000586243.5:c.992G>A ENSP00000467240.2:p.Arg331Gln
ENST00000589152.5:n.1690G>A
ENST00000591133.2:n.963G>A
NM_000455.4:c.992G>A , LRG_319t1:c.992G>A NP_000446.1:p.Arg331Gln
XM_005259617.1:c.992G>A XP_005259674.1:p.Arg331Gln
XM_005259618.3:c.992G>A XP_005259675.1:p.Arg331Gln
XM_011528209.1:c.770G>A XP_011526511.1:p.Arg257Gln
XR_936204.1:n.1768G>A
XM_005259617.3:c.992G>A XP_005259674.1:p.Arg331Gln
XM_011528209.2:c.770G>A XP_011526511.1:p.Arg257Gln
XR_001753738.2:n.1798G>A
XR_001753739.1:n.1798G>A
XR_001753740.2:n.1768G>A
NM_000455.5:c.992G>A MANE Select NP_000446.1:p.Arg331Gln