Canonical Allele Identifier: CA402951865

Gene: STK11

Linked Data

• ClinVar Variation Id: 570868
• ClinVar RCV Id: RCV000691840 ; RCV002406561
• dbSNP Id: rs759473833
• gnomAD v4: 19-1223133-G-C
• MyVariant Identifiers: chr19:g.1223132G>C (hg19) ; chr19:g.1223133G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223133G>C , CM000681.2:g.1223133G>C	GRCh38
NC_000019.9:g.1223132G>C , CM000681.1:g.1223132G>C	GRCh37
NC_000019.8:g.1174132G>C	NCBI36
NG_007460.2:g.38727G>C , LRG_319:g.38727G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1069G>C	ENSP00000490268.2:p.Glu357Gln
ENST00000585748.3:c.697G>C	ENSP00000477641.2:p.Glu233Gln
ENST00000585851.2:c.895G>C	ENSP00000467912.2:p.Glu299Gln
ENST00000326873.12:c.1069G>C MANE Select	ENSP00000324856.6:p.Glu357Gln
ENST00000652231.1:c.1069G>C	ENSP00000498804.1:p.Glu357Gln
ENST00000326873.11:c.1069G>C	ENSP00000324856.6:p.Glu357Gln
ENST00000586243.5:c.1069G>C	ENSP00000467240.2:p.Glu357Gln
ENST00000589152.5:n.1767G>C
NM_000455.4:c.1069G>C , LRG_319t1:c.1069G>C	NP_000446.1:p.Glu357Gln
XM_005259617.1:c.1069G>C	XP_005259674.1:p.Glu357Gln
XM_005259618.3:c.1069G>C	XP_005259675.1:p.Glu357Gln
XM_011528209.1:c.847G>C	XP_011526511.1:p.Glu283Gln
XR_936204.1:n.1845G>C
XM_005259617.3:c.1069G>C	XP_005259674.1:p.Glu357Gln
XM_011528209.2:c.847G>C	XP_011526511.1:p.Glu283Gln
XR_001753738.2:n.1875G>C
XR_001753739.1:n.1875G>C
XR_001753740.2:n.1845G>C
NM_000455.5:c.1069G>C MANE Select	NP_000446.1:p.Glu357Gln