Canonical Allele Identifier: CA023284

Gene: STK11

Linked Data

• ClinVar Variation Id: 142052
• ClinVar RCV Id: RCV000130859 ; RCV000196939 ; RCV000587949 ; RCV001356427
• dbSNP Id: rs587782199
• ExAC: 19:1221294 G / A
• gnomAD v2: 19-1221294-G-A
• gnomAD v3: 19-1221295-G-A
• gnomAD v4: 19-1221295-G-A
• COSMIC: COSM6444456
• MyVariant Identifiers: chr19:g.1221294G>A (hg19) ; chr19:g.1221295G>A (hg38)
• PubMed: PMID:26010451 ; PMID:26898890

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1221295G>A , CM000681.2:g.1221295G>A	GRCh38
NC_000019.9:g.1221294G>A , CM000681.1:g.1221294G>A	GRCh37
NC_000019.8:g.1172294G>A	NCBI36
NG_007460.2:g.36889G>A , LRG_319:g.36889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.817G>A	ENSP00000490268.2:p.Ala273Thr
ENST00000585748.3:c.445G>A	ENSP00000477641.2:p.Ala149Thr
ENST00000585851.2:c.643G>A	ENSP00000467912.2:p.Ala215Thr
ENST00000326873.12:c.817G>A MANE Select	ENSP00000324856.6:p.Ala273Thr
ENST00000652231.1:c.817G>A	ENSP00000498804.1:p.Ala273Thr
ENST00000326873.11:c.817G>A	ENSP00000324856.6:p.Ala273Thr
ENST00000586243.5:c.817G>A	ENSP00000467240.2:p.Ala273Thr
ENST00000586358.5:n.715G>A
ENST00000589152.5:n.907G>A
ENST00000591133.2:n.788G>A
NM_000455.4:c.817G>A , LRG_319t1:c.817G>A	NP_000446.1:p.Ala273Thr
XM_005259617.1:c.817G>A	XP_005259674.1:p.Ala273Thr
XM_005259618.3:c.817G>A	XP_005259675.1:p.Ala273Thr
XM_011528209.1:c.595G>A	XP_011526511.1:p.Ala199Thr
XR_936204.1:n.1442G>A
XM_005259617.3:c.817G>A	XP_005259674.1:p.Ala273Thr
XM_011528209.2:c.595G>A	XP_011526511.1:p.Ala199Thr
XR_001753738.2:n.1442G>A
XR_001753739.1:n.1442G>A
XR_001753740.2:n.1442G>A
NM_000455.5:c.817G>A MANE Select	NP_000446.1:p.Ala273Thr