Canonical Allele Identifier: CA402951762
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 822040
ClinVar RCV Id: RCV001017063
dbSNP Id: rs1448942333
gnomAD v4: 19-1223093-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1223093C>G , CM000681.2:g.1223093C>G GRCh38
NC_000019.9:g.1223092C>G , CM000681.1:g.1223092C>G GRCh37
NC_000019.8:g.1174092C>G NCBI36
NG_007460.2:g.38687C>G , LRG_319:g.38687C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.1029C>G ENSP00000490268.2:p.Asp343Glu
ENST00000585748.3:c.657C>G ENSP00000477641.2:p.Asp219Glu
ENST00000585851.2:c.855C>G ENSP00000467912.2:p.Asp285Glu
ENST00000326873.12:c.1029C>G MANE Select ENSP00000324856.6:p.Asp343Glu
ENST00000652231.1:c.1029C>G ENSP00000498804.1:p.Asp343Glu
ENST00000326873.11:c.1029C>G ENSP00000324856.6:p.Asp343Glu
ENST00000586243.5:c.1029C>G ENSP00000467240.2:p.Asp343Glu
ENST00000589152.5:n.1727C>G
ENST00000591133.2:n.1000C>G
NM_000455.4:c.1029C>G , LRG_319t1:c.1029C>G NP_000446.1:p.Asp343Glu
XM_005259617.1:c.1029C>G XP_005259674.1:p.Asp343Glu
XM_005259618.3:c.1029C>G XP_005259675.1:p.Asp343Glu
XM_011528209.1:c.807C>G XP_011526511.1:p.Asp269Glu
XR_936204.1:n.1805C>G
XM_005259617.3:c.1029C>G XP_005259674.1:p.Asp343Glu
XM_011528209.2:c.807C>G XP_011526511.1:p.Asp269Glu
XR_001753738.2:n.1835C>G
XR_001753739.1:n.1835C>G
XR_001753740.2:n.1805C>G
NM_000455.5:c.1029C>G MANE Select NP_000446.1:p.Asp343Glu