Canonical Allele Identifier: CA349271

Gene: STK11

Linked Data

• ClinVar Variation Id: 220548
• ClinVar RCV Id: RCV000205084 ; RCV000570726 ; RCV002286718
• dbSNP Id: rs864622574
• gnomAD v4: 19-1218489-G-A
• MyVariant Identifiers: chr19:g.1218488G>A (hg19) ; chr19:g.1218489G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1218489G>A , CM000681.2:g.1218489G>A	GRCh38
NC_000019.9:g.1218488G>A , CM000681.1:g.1218488G>A	GRCh37
NC_000019.8:g.1169488G>A	NCBI36
NG_007460.2:g.34083G>A , LRG_319:g.34083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.363G>A	ENSP00000490268.2:p.Glu121=
ENST00000585748.3:c.-10G>A	ENSP00000477641.2:n.-10G>A
ENST00000585851.2:c.291-1884G>A	ENSP00000467912.2:n.291-1884G>A
ENST00000326873.12:c.363G>A MANE Select	ENSP00000324856.6:p.Glu121=
ENST00000652231.1:c.363G>A	ENSP00000498804.1:p.Glu121=
ENST00000326873.11:c.363G>A	ENSP00000324856.6:p.Glu121=
ENST00000585748.2:c.-10G>A	ENSP00000477641.1:n.-10G>A
ENST00000585851.1:c.291-1884G>A	ENSP00000467912.1:n.291-1884G>A
ENST00000586243.5:c.363G>A	ENSP00000467240.2:p.Glu121=
ENST00000586358.5:n.186G>A
ENST00000589152.5:n.453G>A
ENST00000593219.5:c.*188G>A	ENSP00000466610.1:n.*188G>A
NM_000455.4:c.363G>A , LRG_319t1:c.363G>A	NP_000446.1:p.Glu121=
XM_005259617.1:c.363G>A	XP_005259674.1:p.Glu121=
XM_005259618.3:c.363G>A	XP_005259675.1:p.Glu121=
XM_011528209.1:c.141G>A	XP_011526511.1:p.Glu47=
XR_936204.1:n.988G>A
XM_005259617.3:c.363G>A	XP_005259674.1:p.Glu121=
XM_011528209.2:c.141G>A	XP_011526511.1:p.Glu47=
XR_001753738.2:n.988G>A
XR_001753739.1:n.988G>A
XR_001753740.2:n.988G>A
NM_000455.5:c.363G>A MANE Select	NP_000446.1:p.Glu121=