Canonical Allele Identifier: CA022217

Gene: STK11

Linked Data

• ClinVar Variation Id: 184691
• ClinVar RCV Id: RCV000163988 ; RCV000220705 ; RCV000233264 ; RCV000587275 ; RCV001358350 ; RCV003937503
• dbSNP Id: rs537906142
• ExAC: 19:1223104 G / A
• gnomAD v2: 19-1223104-G-A
• gnomAD v3: 19-1223105-G-A
• gnomAD v4: 19-1223105-G-A
• COSMIC: COSM4580633 ; COSM4580634
• MyVariant Identifiers: chr19:g.1223104G>A (hg19) ; chr19:g.1223105G>A (hg38)
• PubMed: PMID:14623934 ; PMID:15121768 ; PMID:25186949

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223105G>A , CM000681.2:g.1223105G>A	GRCh38
NC_000019.9:g.1223104G>A , CM000681.1:g.1223104G>A	GRCh37
NC_000019.8:g.1174104G>A	NCBI36
NG_007460.2:g.38699G>A , LRG_319:g.38699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1041G>A	ENSP00000490268.2:p.Ala347=
ENST00000585748.3:c.669G>A	ENSP00000477641.2:p.Ala223=
ENST00000585851.2:c.867G>A	ENSP00000467912.2:p.Ala289=
ENST00000326873.12:c.1041G>A MANE Select	ENSP00000324856.6:p.Ala347=
ENST00000652231.1:c.1041G>A	ENSP00000498804.1:p.Ala347=
ENST00000326873.11:c.1041G>A	ENSP00000324856.6:p.Ala347=
ENST00000586243.5:c.1041G>A	ENSP00000467240.2:p.Ala347=
ENST00000589152.5:n.1739G>A
NM_000455.4:c.1041G>A , LRG_319t1:c.1041G>A	NP_000446.1:p.Ala347=
XM_005259617.1:c.1041G>A	XP_005259674.1:p.Ala347=
XM_005259618.3:c.1041G>A	XP_005259675.1:p.Ala347=
XM_011528209.1:c.819G>A	XP_011526511.1:p.Ala273=
XR_936204.1:n.1817G>A
XM_005259617.3:c.1041G>A	XP_005259674.1:p.Ala347=
XM_011528209.2:c.819G>A	XP_011526511.1:p.Ala273=
XR_001753738.2:n.1847G>A
XR_001753739.1:n.1847G>A
XR_001753740.2:n.1817G>A
NM_000455.5:c.1041G>A MANE Select	NP_000446.1:p.Ala347=