Canonical Allele Identifier: CA023324

Gene: STK11

Linked Data

• ClinVar Variation Id: 139337
• ClinVar RCV Id: RCV000128299 ; RCV000213023 ; RCV000473797 ; RCV001357918 ; RCV003905222
• dbSNP Id: rs587781178
• ExAC: 19:1221967 G / A
• gnomAD v2: 19-1221967-G-A
• gnomAD v3: 19-1221968-G-A
• gnomAD v4: 19-1221968-G-A
• COSMIC: COSM327300
• MyVariant Identifiers: chr19:g.1221967G>A (hg19) ; chr19:g.1221968G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1221968G>A , CM000681.2:g.1221968G>A	GRCh38
NC_000019.9:g.1221967G>A , CM000681.1:g.1221967G>A	GRCh37
NC_000019.8:g.1172967G>A	NCBI36
NG_007460.2:g.37562G>A , LRG_319:g.37562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.882G>A	ENSP00000490268.2:p.Pro294=
ENST00000585748.3:c.510G>A	ENSP00000477641.2:p.Pro170=
ENST00000585851.2:c.708G>A	ENSP00000467912.2:p.Pro236=
ENST00000326873.12:c.882G>A MANE Select	ENSP00000324856.6:p.Pro294=
ENST00000652231.1:c.882G>A	ENSP00000498804.1:p.Pro294=
ENST00000326873.11:c.882G>A	ENSP00000324856.6:p.Pro294=
ENST00000586243.5:c.882G>A	ENSP00000467240.2:p.Pro294=
ENST00000589152.5:n.1580G>A
ENST00000591133.2:n.853G>A
NM_000455.4:c.882G>A , LRG_319t1:c.882G>A	NP_000446.1:p.Pro294=
XM_005259617.1:c.882G>A	XP_005259674.1:p.Pro294=
XM_005259618.3:c.882G>A	XP_005259675.1:p.Pro294=
XM_011528209.1:c.660G>A	XP_011526511.1:p.Pro220=
XR_936204.1:n.1658G>A
XM_005259617.3:c.882G>A	XP_005259674.1:p.Pro294=
XM_011528209.2:c.660G>A	XP_011526511.1:p.Pro220=
XR_001753738.2:n.1688G>A
XR_001753739.1:n.1688G>A
XR_001753740.2:n.1658G>A
NM_000455.5:c.882G>A MANE Select	NP_000446.1:p.Pro294=