Canonical Allele Identifier: CA402944662

Gene: STK11

Linked Data

• ClinVar Variation Id: 428787
• ClinVar RCV Id: RCV000492614 ; RCV000533344
• dbSNP Id: rs1131690950
• gnomAD v3: 19-1207204-G-A
• gnomAD v4: 19-1207204-G-A
• COSMIC: COSM6350392 ; COSM6350393
• MyVariant Identifiers: chr19:g.1207203G>A (hg19) ; chr19:g.1207204G>A (hg38)
• PubMed: PMID:11389158 ; PMID:12372054 ; PMID:16287113 ; PMID:16707622 ; PMID:17026623 ; PMID:26607058

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1207204G>A , CM000681.2:g.1207204G>A	GRCh38
NC_000019.9:g.1207203G>A , CM000681.1:g.1207203G>A	GRCh37
NC_000019.8:g.1158203G>A	NCBI36
NG_007460.2:g.22798G>A , LRG_319:g.22798G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.290+1G>A	ENSP00000490268.2:n.290+1G>A
ENST00000585748.3:c.-82-11213G>A	ENSP00000477641.2:n.-82-11213G>A
ENST00000585851.2:c.290+1G>A	ENSP00000467912.2:n.290+1G>A
ENST00000326873.12:c.290+1G>A MANE Select	ENSP00000324856.6:n.290+1G>A
ENST00000652231.1:c.290+1G>A	ENSP00000498804.1:n.290+1G>A
ENST00000326873.11:c.290+1G>A	ENSP00000324856.6:n.290+1G>A
ENST00000585748.2:c.-82-11213G>A	ENSP00000477641.1:n.-82-11213G>A
ENST00000585851.1:c.290+1G>A	ENSP00000467912.1:n.290+1G>A
ENST00000586243.5:c.290+1G>A	ENSP00000467240.2:n.290+1G>A
ENST00000586358.5:n.113+1G>A
ENST00000589152.5:n.380+1G>A
ENST00000593219.5:c.290+1G>A	ENSP00000466610.1:n.290+1G>A
NM_000455.4:c.290+1G>A , LRG_319t1:c.290+1G>A	NP_000446.1:n.290+1G>A
XM_005259617.1:c.290+1G>A	XP_005259674.1:n.290+1G>A
XM_005259618.3:c.290+1G>A	XP_005259675.1:n.290+1G>A
XM_011528209.1:c.-64+1G>A	XP_011526511.1:n.-64+1G>A
XR_936204.1:n.915+1G>A
XM_005259617.3:c.290+1G>A	XP_005259674.1:n.290+1G>A
XM_011528209.2:c.-64+1G>A	XP_011526511.1:n.-64+1G>A
XR_001753738.2:n.915+1G>A
XR_001753739.1:n.915+1G>A
XR_001753740.2:n.915+1G>A
NM_000455.5:c.290+1G>A MANE Select	NP_000446.1:n.290+1G>A