Canonical Allele Identifier: CA022857

Gene: STK11

Linked Data

• ClinVar Variation Id: 139330
• ClinVar RCV Id: RCV000128292 ; RCV000195449 ; RCV000580100 ; RCV000586954
• dbSNP Id: rs587781176
• ExAC: 19:1219316 G / A
• gnomAD v2: 19-1219316-G-A
• gnomAD v3: 19-1219317-G-A
• gnomAD v4: 19-1219317-G-A
• COSMIC: COSM2815322
• MyVariant Identifiers: chr19:g.1219316G>A (hg19) ; chr19:g.1219317G>A (hg38)
• PubMed: PMID:27443514

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1219317G>A , CM000681.2:g.1219317G>A	GRCh38
NC_000019.9:g.1219316G>A , CM000681.1:g.1219316G>A	GRCh37
NC_000019.8:g.1170316G>A	NCBI36
NG_007460.2:g.34911G>A , LRG_319:g.34911G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.375-7G>A	ENSP00000490268.2:n.375-7G>A
ENST00000585748.3:c.3-7G>A	ENSP00000477641.2:n.3-7G>A
ENST00000585851.2:c.291-1056G>A	ENSP00000467912.2:n.291-1056G>A
ENST00000326873.12:c.375-7G>A MANE Select	ENSP00000324856.6:n.375-7G>A
ENST00000652231.1:c.375-7G>A	ENSP00000498804.1:n.375-7G>A
ENST00000326873.11:c.375-7G>A	ENSP00000324856.6:n.375-7G>A
ENST00000585748.2:c.3-7G>A	ENSP00000477641.1:n.3-7G>A
ENST00000585851.1:c.291-1056G>A	ENSP00000467912.1:n.291-1056G>A
ENST00000586243.5:c.375-7G>A	ENSP00000467240.2:n.375-7G>A
ENST00000586358.5:n.198-7G>A
ENST00000589152.5:n.465-7G>A
ENST00000593219.5:c.*200-7G>A	ENSP00000466610.1:n.*200-7G>A
NM_000455.4:c.375-7G>A , LRG_319t1:c.375-7G>A	NP_000446.1:n.375-7G>A
XM_005259617.1:c.375-7G>A	XP_005259674.1:n.375-7G>A
XM_005259618.3:c.375-7G>A	XP_005259675.1:n.375-7G>A
XM_011528209.1:c.153-7G>A	XP_011526511.1:n.153-7G>A
XR_936204.1:n.1000-7G>A
XM_005259617.3:c.375-7G>A	XP_005259674.1:n.375-7G>A
XM_011528209.2:c.153-7G>A	XP_011526511.1:n.153-7G>A
XR_001753738.2:n.1000-7G>A
XR_001753739.1:n.1000-7G>A
XR_001753740.2:n.1000-7G>A
NM_000455.5:c.375-7G>A MANE Select	NP_000446.1:n.375-7G>A