Canonical Allele Identifier: CA023331

Gene: STK11

Linked Data

• ClinVar Variation Id: 127707
• ClinVar RCV Id: RCV000115603 ; RCV000213024 ; RCV000195949 ; RCV001293890 ; RCV003114259 ; RCV003891609
• dbSNP Id: rs199681533
• ExAC: 19:1221979 C / A
• gnomAD v2: 19-1221979-C-A
• gnomAD v3: 19-1221980-C-A
• gnomAD v4: 19-1221980-C-A
• COSMIC: COSM29467
• MyVariant Identifiers: chr19:g.1221979C>A (hg19) ; chr19:g.1221980C>A (hg38)
• PubMed: PMID:19340305 ; PMID:23555315 ; PMID:23893923 ; PMID:24652667 ; PMID:25980754 ; PMID:27615706

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1221980C>A , CM000681.2:g.1221980C>A	GRCh38
NC_000019.9:g.1221979C>A , CM000681.1:g.1221979C>A	GRCh37
NC_000019.8:g.1172979C>A	NCBI36
NG_007460.2:g.37574C>A , LRG_319:g.37574C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.894C>A	ENSP00000490268.2:p.Phe298Leu
ENST00000585748.3:c.522C>A	ENSP00000477641.2:p.Phe174Leu
ENST00000585851.2:c.720C>A	ENSP00000467912.2:p.Phe240Leu
ENST00000326873.12:c.894C>A MANE Select	ENSP00000324856.6:p.Phe298Leu
ENST00000652231.1:c.894C>A	ENSP00000498804.1:p.Phe298Leu
ENST00000326873.11:c.894C>A	ENSP00000324856.6:p.Phe298Leu
ENST00000586243.5:c.894C>A	ENSP00000467240.2:p.Phe298Leu
ENST00000589152.5:n.1592C>A
ENST00000591133.2:n.865C>A
NM_000455.4:c.894C>A , LRG_319t1:c.894C>A	NP_000446.1:p.Phe298Leu
XM_005259617.1:c.894C>A	XP_005259674.1:p.Phe298Leu
XM_005259618.3:c.894C>A	XP_005259675.1:p.Phe298Leu
XM_011528209.1:c.672C>A	XP_011526511.1:p.Phe224Leu
XR_936204.1:n.1670C>A
XM_005259617.3:c.894C>A	XP_005259674.1:p.Phe298Leu
XM_011528209.2:c.672C>A	XP_011526511.1:p.Phe224Leu
XR_001753738.2:n.1700C>A
XR_001753739.1:n.1700C>A
XR_001753740.2:n.1670C>A
NM_000455.5:c.894C>A MANE Select	NP_000446.1:p.Phe298Leu