Canonical Allele Identifier: CA402949381

Gene: STK11

Linked Data

• ClinVar Variation Id: 428770
• ClinVar RCV Id: RCV000492574 ; RCV001389743
• dbSNP Id: rs1131690934
• gnomAD v4: 19-1220579-A-G
• MyVariant Identifiers: chr19:g.1220578A>G (hg19) ; chr19:g.1220579A>G (hg38)
• PubMed: PMID:11389158 ; PMID:16707622

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1220579A>G , CM000681.2:g.1220579A>G	GRCh38
NC_000019.9:g.1220578A>G , CM000681.1:g.1220578A>G	GRCh37
NC_000019.8:g.1171578A>G	NCBI36
NG_007460.2:g.36173A>G , LRG_319:g.36173A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.598-2A>G	ENSP00000490268.2:n.598-2A>G
ENST00000585748.3:c.226-2A>G	ENSP00000477641.2:n.226-2A>G
ENST00000585851.2:c.424-2A>G	ENSP00000467912.2:n.424-2A>G
ENST00000326873.12:c.598-2A>G MANE Select	ENSP00000324856.6:n.598-2A>G
ENST00000652231.1:c.598-2A>G	ENSP00000498804.1:n.598-2A>G
ENST00000326873.11:c.598-2A>G	ENSP00000324856.6:n.598-2A>G
ENST00000585851.1:c.424-2A>G	ENSP00000467912.1:n.424-2A>G
ENST00000586243.5:c.598-2A>G	ENSP00000467240.2:n.598-2A>G
ENST00000586358.5:n.494A>G
ENST00000589152.5:n.688-2A>G
ENST00000591133.2:n.567A>G
NM_000455.4:c.598-2A>G , LRG_319t1:c.598-2A>G	NP_000446.1:n.598-2A>G
XM_005259617.1:c.598-2A>G	XP_005259674.1:n.598-2A>G
XM_005259618.3:c.598-2A>G	XP_005259675.1:n.598-2A>G
XM_011528209.1:c.376-2A>G	XP_011526511.1:n.376-2A>G
XR_936204.1:n.1223-2A>G
XM_005259617.3:c.598-2A>G	XP_005259674.1:n.598-2A>G
XM_011528209.2:c.376-2A>G	XP_011526511.1:n.376-2A>G
XR_001753738.2:n.1223-2A>G
XR_001753739.1:n.1223-2A>G
XR_001753740.2:n.1223-2A>G
NM_000455.5:c.598-2A>G MANE Select	NP_000446.1:n.598-2A>G