Canonical Allele Identifier: CA045047

Gene: STK11

Linked Data

• ClinVar Variation Id: 412537
• ClinVar RCV Id: RCV000571538 ; RCV001082664 ; RCV000833846 ; RCV001356730 ; RCV001255638 ; RCV002268095
• dbSNP Id: rs556651007
• ExAC: 19:1223134 G / T
• gnomAD v2: 19-1223134-G-T
• gnomAD v3: 19-1223135-G-T
• gnomAD v4: 19-1223135-G-T
• MyVariant Identifiers: chr19:g.1223134G>T (hg19) ; chr19:g.1223135G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223135G>T , CM000681.2:g.1223135G>T	GRCh38
NC_000019.9:g.1223134G>T , CM000681.1:g.1223134G>T	GRCh37
NC_000019.8:g.1174134G>T	NCBI36
NG_007460.2:g.38729G>T , LRG_319:g.38729G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1071G>T	ENSP00000490268.2:p.Glu357Asp
ENST00000585748.3:c.699G>T	ENSP00000477641.2:p.Glu233Asp
ENST00000585851.2:c.897G>T	ENSP00000467912.2:p.Glu299Asp
ENST00000326873.12:c.1071G>T MANE Select	ENSP00000324856.6:p.Glu357Asp
ENST00000652231.1:c.1071G>T	ENSP00000498804.1:p.Glu357Asp
ENST00000326873.11:c.1071G>T	ENSP00000324856.6:p.Glu357Asp
ENST00000586243.5:c.1071G>T	ENSP00000467240.2:p.Glu357Asp
ENST00000589152.5:n.1769G>T
NM_000455.4:c.1071G>T , LRG_319t1:c.1071G>T	NP_000446.1:p.Glu357Asp
XM_005259617.1:c.1071G>T	XP_005259674.1:p.Glu357Asp
XM_005259618.3:c.1071G>T	XP_005259675.1:p.Glu357Asp
XM_011528209.1:c.849G>T	XP_011526511.1:p.Glu283Asp
XR_936204.1:n.1847G>T
XM_005259617.3:c.1071G>T	XP_005259674.1:p.Glu357Asp
XM_011528209.2:c.849G>T	XP_011526511.1:p.Glu283Asp
XR_001753738.2:n.1877G>T
XR_001753739.1:n.1877G>T
XR_001753740.2:n.1847G>T
NM_000455.5:c.1071G>T MANE Select	NP_000446.1:p.Glu357Asp