Canonical Allele Identifier: CA402942916

Gene: STK11

Linked Data

• ClinVar Variation Id: 492547
• ClinVar RCV Id: RCV001764711 ; RCV003459450
• dbSNP Id: rs1159551738
• gnomAD v2: 19-1206917-A-C
• gnomAD v4: 19-1206918-A-C
• MyVariant Identifiers: chr19:g.1206917A>C (hg19) ; chr19:g.1206918A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1206918A>C , CM000681.2:g.1206918A>C	GRCh38
NC_000019.9:g.1206917A>C , CM000681.1:g.1206917A>C	GRCh37
NC_000019.8:g.1157917A>C	NCBI36
NG_007460.2:g.22512A>C , LRG_319:g.22512A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.5A>C	ENSP00000490268.2:p.Glu2Ala
ENST00000585748.3:c.-82-11499A>C	ENSP00000477641.2:n.-82-11499A>C
ENST00000585851.2:c.5A>C	ENSP00000467912.2:p.Glu2Ala
ENST00000326873.12:c.5A>C MANE Select	ENSP00000324856.6:p.Glu2Ala
ENST00000652231.1:c.5A>C	ENSP00000498804.1:p.Glu2Ala
ENST00000326873.11:c.5A>C	ENSP00000324856.6:p.Glu2Ala
ENST00000585748.2:c.-82-11499A>C	ENSP00000477641.1:n.-82-11499A>C
ENST00000585851.1:c.5A>C	ENSP00000467912.1:p.Glu2Ala
ENST00000586243.5:c.5A>C	ENSP00000467240.2:p.Glu2Ala
ENST00000589152.5:n.95A>C
ENST00000593219.5:c.5A>C	ENSP00000466610.1:p.Glu2Ala
NM_000455.4:c.5A>C , LRG_319t1:c.5A>C	NP_000446.1:p.Glu2Ala
XM_005259617.1:c.5A>C	XP_005259674.1:p.Glu2Ala
XM_005259618.3:c.5A>C	XP_005259675.1:p.Glu2Ala
XM_011528209.1:c.-349A>C	XP_011526511.1:n.-349A>C
XR_936204.1:n.630A>C
XM_005259617.3:c.5A>C	XP_005259674.1:p.Glu2Ala
XM_011528209.2:c.-349A>C	XP_011526511.1:n.-349A>C
XR_001753738.2:n.630A>C
XR_001753739.1:n.630A>C
XR_001753740.2:n.630A>C
NM_000455.5:c.5A>C MANE Select	NP_000446.1:p.Glu2Ala