Canonical Allele Identifier: CA16616046

Gene: STK11

Linked Data

• ClinVar Variation Id: 412553
• ClinVar RCV Id: RCV000470338 ; RCV002383841
• dbSNP Id: rs1060503787
• gnomAD v4: 19-1226638-G-A
• MyVariant Identifiers: chr19:g.1226637G>A (hg19) ; chr19:g.1226638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226638G>A , CM000681.2:g.1226638G>A	GRCh38
NC_000019.9:g.1226637G>A , CM000681.1:g.1226637G>A	GRCh37
NC_000019.8:g.1177637G>A	NCBI36
NG_007460.2:g.42232G>A , LRG_319:g.42232G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2894G>A	ENSP00000490268.2:n.*2894G>A
ENST00000585748.3:c.921G>A	ENSP00000477641.2:p.Lys307=
ENST00000585851.2:c.1119G>A	ENSP00000467912.2:p.Lys373=
ENST00000326873.12:c.1293G>A MANE Select	ENSP00000324856.6:p.Lys431=
ENST00000326873.11:c.1293G>A	ENSP00000324856.6:p.Lys431=
ENST00000585465.2:n.3026G>A
ENST00000586243.5:c.1290G>A	ENSP00000467240.2:p.Lys430=
ENST00000589152.5:n.1991G>A
NM_000455.4:c.1293G>A , LRG_319t1:c.1293G>A	NP_000446.1:p.Lys431=
XM_005259617.1:c.1288G>A	XP_005259674.1:p.Ala430Thr
XM_011528209.1:c.1066G>A	XP_011526511.1:p.Ala356Thr
XM_005259617.3:c.1288G>A	XP_005259674.1:p.Ala430Thr
XM_011528209.2:c.1066G>A	XP_011526511.1:p.Ala356Thr
XR_001753738.2:n.2099G>A
XR_001753740.2:n.2069G>A
NM_000455.5:c.1293G>A MANE Select	NP_000446.1:p.Lys431=