Canonical Allele Identifier: CA022532

Gene: STK11

Linked Data

• ClinVar Variation Id: 183999
• ClinVar RCV Id: RCV000163101 ; RCV001808434
• dbSNP Id: rs587782876
• gnomAD v4: 19-1226594-G-A
• COSMIC: COSM5474056 ; COSM5474057
• MyVariant Identifiers: chr19:g.1226593G>A (hg19) ; chr19:g.1226594G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226594G>A , CM000681.2:g.1226594G>A	GRCh38
NC_000019.9:g.1226593G>A , CM000681.1:g.1226593G>A	GRCh37
NC_000019.8:g.1177593G>A	NCBI36
NG_007460.2:g.42188G>A , LRG_319:g.42188G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2850G>A	ENSP00000490268.2:n.*2850G>A
ENST00000585748.3:c.877G>A	ENSP00000477641.2:p.Ala293Thr
ENST00000585851.2:c.1075G>A	ENSP00000467912.2:p.Ala359Thr
ENST00000326873.12:c.1249G>A MANE Select	ENSP00000324856.6:p.Ala417Thr
ENST00000326873.11:c.1249G>A	ENSP00000324856.6:p.Ala417Thr
ENST00000585465.2:n.2982G>A
ENST00000586243.5:c.1248G>A	ENSP00000467240.2:p.Arg416=
ENST00000589152.5:n.1947G>A
NM_000455.4:c.1249G>A , LRG_319t1:c.1249G>A	NP_000446.1:p.Ala417Thr
XM_005259617.1:c.1244G>A	XP_005259674.1:p.Gly415Asp
XM_011528209.1:c.1022G>A	XP_011526511.1:p.Gly341Asp
XM_005259617.3:c.1244G>A	XP_005259674.1:p.Gly415Asp
XM_011528209.2:c.1022G>A	XP_011526511.1:p.Gly341Asp
XR_001753738.2:n.2055G>A
XR_001753740.2:n.2025G>A
NM_000455.5:c.1249G>A MANE Select	NP_000446.1:p.Ala417Thr