Canonical Allele Identifier: CA16616232

Gene: STK11

Linked Data

• ClinVar Variation Id: 403783
• ClinVar RCV Id: RCV000458847 ; RCV002402227 ; RCV003150212
• dbSNP Id: rs757815836
• gnomAD v4: 19-1223110-A-C
• MyVariant Identifiers: chr19:g.1223109A>C (hg19) ; chr19:g.1223110A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223110A>C , CM000681.2:g.1223110A>C	GRCh38
NC_000019.9:g.1223109A>C , CM000681.1:g.1223109A>C	GRCh37
NC_000019.8:g.1174109A>C	NCBI36
NG_007460.2:g.38704A>C , LRG_319:g.38704A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1046A>C	ENSP00000490268.2:p.Glu349Ala
ENST00000585748.3:c.674A>C	ENSP00000477641.2:p.Glu225Ala
ENST00000585851.2:c.872A>C	ENSP00000467912.2:p.Glu291Ala
ENST00000326873.12:c.1046A>C MANE Select	ENSP00000324856.6:p.Glu349Ala
ENST00000652231.1:c.1046A>C	ENSP00000498804.1:p.Glu349Ala
ENST00000326873.11:c.1046A>C	ENSP00000324856.6:p.Glu349Ala
ENST00000586243.5:c.1046A>C	ENSP00000467240.2:p.Glu349Ala
ENST00000589152.5:n.1744A>C
NM_000455.4:c.1046A>C , LRG_319t1:c.1046A>C	NP_000446.1:p.Glu349Ala
XM_005259617.1:c.1046A>C	XP_005259674.1:p.Glu349Ala
XM_005259618.3:c.1046A>C	XP_005259675.1:p.Glu349Ala
XM_011528209.1:c.824A>C	XP_011526511.1:p.Glu275Ala
XR_936204.1:n.1822A>C
XM_005259617.3:c.1046A>C	XP_005259674.1:p.Glu349Ala
XM_011528209.2:c.824A>C	XP_011526511.1:p.Glu275Ala
XR_001753738.2:n.1852A>C
XR_001753739.1:n.1852A>C
XR_001753740.2:n.1822A>C
NM_000455.5:c.1046A>C MANE Select	NP_000446.1:p.Glu349Ala