Canonical Allele Identifier: CA049126

Gene: STK11

Linked Data

• ClinVar Variation Id: 380748
• ClinVar RCV Id: RCV000775657 ; RCV000874100 ; RCV001720071 ; RCV003892130
• dbSNP Id: rs756095270
• ExAC: 19:1221320 G / A
• gnomAD v2: 19-1221320-G-A
• gnomAD v4: 19-1221321-G-A
• COSMIC: COSM2815342 ; COSM4278112
• MyVariant Identifiers: chr19:g.1221320G>A (hg19) ; chr19:g.1221321G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1221321G>A , CM000681.2:g.1221321G>A	GRCh38
NC_000019.9:g.1221320G>A , CM000681.1:g.1221320G>A	GRCh37
NC_000019.8:g.1172320G>A	NCBI36
NG_007460.2:g.36915G>A , LRG_319:g.36915G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.843G>A	ENSP00000490268.2:p.Pro281=
ENST00000585748.3:c.471G>A	ENSP00000477641.2:p.Pro157=
ENST00000585851.2:c.669G>A	ENSP00000467912.2:p.Pro223=
ENST00000326873.12:c.843G>A MANE Select	ENSP00000324856.6:p.Pro281=
ENST00000652231.1:c.843G>A	ENSP00000498804.1:p.Pro281=
ENST00000326873.11:c.843G>A	ENSP00000324856.6:p.Pro281=
ENST00000586243.5:c.843G>A	ENSP00000467240.2:p.Pro281=
ENST00000586358.5:n.741G>A
ENST00000589152.5:n.933G>A
ENST00000591133.2:n.814G>A
NM_000455.4:c.843G>A , LRG_319t1:c.843G>A	NP_000446.1:p.Pro281=
XM_005259617.1:c.843G>A	XP_005259674.1:p.Pro281=
XM_005259618.3:c.843G>A	XP_005259675.1:p.Pro281=
XM_011528209.1:c.621G>A	XP_011526511.1:p.Pro207=
XR_936204.1:n.1468G>A
XM_005259617.3:c.843G>A	XP_005259674.1:p.Pro281=
XM_011528209.2:c.621G>A	XP_011526511.1:p.Pro207=
XR_001753738.2:n.1468G>A
XR_001753739.1:n.1468G>A
XR_001753740.2:n.1468G>A
NM_000455.5:c.843G>A MANE Select	NP_000446.1:p.Pro281=