Canonical Allele Identifier: CA022456

Gene: STK11

Linked Data

• ClinVar Variation Id: 184516
• ClinVar RCV Id: RCV000163785 ; RCV000206290 ; RCV001084282 ; RCV003479033 ; RCV003945279
• dbSNP Id: rs368661707
• ExAC: 19:1226544 G / A
• gnomAD v2: 19-1226544-G-A
• gnomAD v3: 19-1226545-G-A
• gnomAD v4: 19-1226545-G-A
• MyVariant Identifiers: chr19:g.1226544G>A (hg19) ; chr19:g.1226545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226545G>A , CM000681.2:g.1226545G>A	GRCh38
NC_000019.9:g.1226544G>A , CM000681.1:g.1226544G>A	GRCh37
NC_000019.8:g.1177544G>A	NCBI36
NG_007460.2:g.42139G>A , LRG_319:g.42139G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.*2801G>A	ENSP00000490268.2:n.*2801G>A
ENST00000585748.3:c.828G>A	ENSP00000477641.2:p.Leu276=
ENST00000585851.2:c.1026G>A	ENSP00000467912.2:p.Leu342=
ENST00000326873.12:c.1200G>A MANE Select	ENSP00000324856.6:p.Leu400=
ENST00000326873.11:c.1200G>A	ENSP00000324856.6:p.Leu400=
ENST00000585465.2:n.2933G>A
ENST00000586243.5:c.1200G>A	ENSP00000467240.2:p.Leu400=
ENST00000589152.5:n.1898G>A
NM_000455.4:c.1200G>A , LRG_319t1:c.1200G>A	NP_000446.1:p.Leu400=
XM_005259617.1:c.1195G>A	XP_005259674.1:p.Glu399Lys
XM_011528209.1:c.973G>A	XP_011526511.1:p.Glu325Lys
XM_005259617.3:c.1195G>A	XP_005259674.1:p.Glu399Lys
XM_011528209.2:c.973G>A	XP_011526511.1:p.Glu325Lys
XR_001753738.2:n.2006G>A
XR_001753740.2:n.1976G>A
NM_000455.5:c.1200G>A MANE Select	NP_000446.1:p.Leu400=