Canonical Allele Identifier: CA047186

Gene: STK11

Linked Data

• ClinVar Variation Id: 490165
• ClinVar RCV Id: RCV000579450 ; RCV000701376 ; RCV001293888 ; RCV002307554 ; RCV002509454
• dbSNP Id: rs775595174
• ExAC: 19:1218483 G / A
• gnomAD v2: 19-1218483-G-A
• gnomAD v3: 19-1218484-G-A
• gnomAD v4: 19-1218484-G-A
• MyVariant Identifiers: chr19:g.1218483G>A (hg19) ; chr19:g.1218484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1218484G>A , CM000681.2:g.1218484G>A	GRCh38
NC_000019.9:g.1218483G>A , CM000681.1:g.1218483G>A	GRCh37
NC_000019.8:g.1169483G>A	NCBI36
NG_007460.2:g.34078G>A , LRG_319:g.34078G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.358G>A	ENSP00000490268.2:p.Glu120Lys
ENST00000585748.3:c.-15G>A	ENSP00000477641.2:n.-15G>A
ENST00000585851.2:c.291-1889G>A	ENSP00000467912.2:n.291-1889G>A
ENST00000326873.12:c.358G>A MANE Select	ENSP00000324856.6:p.Glu120Lys
ENST00000652231.1:c.358G>A	ENSP00000498804.1:p.Glu120Lys
ENST00000326873.11:c.358G>A	ENSP00000324856.6:p.Glu120Lys
ENST00000585748.2:c.-15G>A	ENSP00000477641.1:n.-15G>A
ENST00000585851.1:c.291-1889G>A	ENSP00000467912.1:n.291-1889G>A
ENST00000586243.5:c.358G>A	ENSP00000467240.2:p.Glu120Lys
ENST00000586358.5:n.181G>A
ENST00000589152.5:n.448G>A
ENST00000593219.5:c.*183G>A	ENSP00000466610.1:n.*183G>A
NM_000455.4:c.358G>A , LRG_319t1:c.358G>A	NP_000446.1:p.Glu120Lys
XM_005259617.1:c.358G>A	XP_005259674.1:p.Glu120Lys
XM_005259618.3:c.358G>A	XP_005259675.1:p.Glu120Lys
XM_011528209.1:c.136G>A	XP_011526511.1:p.Glu46Lys
XR_936204.1:n.983G>A
XM_005259617.3:c.358G>A	XP_005259674.1:p.Glu120Lys
XM_011528209.2:c.136G>A	XP_011526511.1:p.Glu46Lys
XR_001753738.2:n.983G>A
XR_001753739.1:n.983G>A
XR_001753740.2:n.983G>A
NM_000455.5:c.358G>A MANE Select	NP_000446.1:p.Glu120Lys