Canonical Allele Identifier: CA047962

Gene: STK11

Linked Data

• ClinVar Variation Id: 825322
• ClinVar RCV Id: RCV001023326
• dbSNP Id: rs370446299
• ExAC: 19:1220402 G / A
• gnomAD v2: 19-1220402-G-A
• gnomAD v3: 19-1220403-G-A
• gnomAD v4: 19-1220403-G-A
• MyVariant Identifiers: chr19:g.1220402G>A (hg19) ; chr19:g.1220403G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1220403G>A , CM000681.2:g.1220403G>A	GRCh38
NC_000019.9:g.1220402G>A , CM000681.1:g.1220402G>A	GRCh37
NC_000019.8:g.1171402G>A	NCBI36
NG_007460.2:g.35997G>A , LRG_319:g.35997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.495G>A	ENSP00000490268.2:p.Glu165=
ENST00000585748.3:c.123G>A	ENSP00000477641.2:p.Glu41=
ENST00000585851.2:c.321G>A	ENSP00000467912.2:p.Glu107=
ENST00000326873.12:c.495G>A MANE Select	ENSP00000324856.6:p.Glu165=
ENST00000652231.1:c.495G>A	ENSP00000498804.1:p.Glu165=
ENST00000326873.11:c.495G>A	ENSP00000324856.6:p.Glu165=
ENST00000585851.1:c.321G>A	ENSP00000467912.1:p.Glu107=
ENST00000586243.5:c.495G>A	ENSP00000467240.2:p.Glu165=
ENST00000586358.5:n.318G>A
ENST00000589152.5:n.585G>A
ENST00000591133.2:n.391G>A
NM_000455.4:c.495G>A , LRG_319t1:c.495G>A	NP_000446.1:p.Glu165=
XM_005259617.1:c.495G>A	XP_005259674.1:p.Glu165=
XM_005259618.3:c.495G>A	XP_005259675.1:p.Glu165=
XM_011528209.1:c.273G>A	XP_011526511.1:p.Glu91=
XR_936204.1:n.1120G>A
XM_005259617.3:c.495G>A	XP_005259674.1:p.Glu165=
XM_011528209.2:c.273G>A	XP_011526511.1:p.Glu91=
XR_001753738.2:n.1120G>A
XR_001753739.1:n.1120G>A
XR_001753740.2:n.1120G>A
NM_000455.5:c.495G>A MANE Select	NP_000446.1:p.Glu165=