Canonical Allele Identifier: CA023091

Gene: STK11

Linked Data

• ClinVar Variation Id: 188348
• ClinVar RCV Id: RCV000168375 ; RCV000445048 ; RCV000427095 ; RCV000492479 ; RCV000708629
• dbSNP Id: rs121913315
• gnomAD v4: 19-1220488-G-A
• COSMIC: COSM25847
• MyVariant Identifiers: chr19:g.1220487G>A (hg19) ; chr19:g.1220488G>A (hg38)
• PubMed: PMID:10408777 ; PMID:12865922 ; PMID:15863673 ; PMID:16582077 ; PMID:17026623 ; PMID:17676035 ; PMID:23399955 ; PMID:23718779 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1220488G>A , CM000681.2:g.1220488G>A	GRCh38
NC_000019.9:g.1220487G>A , CM000681.1:g.1220487G>A	GRCh37
NC_000019.8:g.1171487G>A	NCBI36
NG_007460.2:g.36082G>A , LRG_319:g.36082G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.580G>A	ENSP00000490268.2:p.Asp194Asn
ENST00000585748.3:c.208G>A	ENSP00000477641.2:p.Asp70Asn
ENST00000585851.2:c.406G>A	ENSP00000467912.2:p.Asp136Asn
ENST00000326873.12:c.580G>A MANE Select	ENSP00000324856.6:p.Asp194Asn
ENST00000652231.1:c.580G>A	ENSP00000498804.1:p.Asp194Asn
ENST00000326873.11:c.580G>A	ENSP00000324856.6:p.Asp194Asn
ENST00000585851.1:c.406G>A	ENSP00000467912.1:p.Asp136Asn
ENST00000586243.5:c.580G>A	ENSP00000467240.2:p.Asp194Asn
ENST00000586358.5:n.403G>A
ENST00000589152.5:n.670G>A
ENST00000591133.2:n.476G>A
NM_000455.4:c.580G>A , LRG_319t1:c.580G>A	NP_000446.1:p.Asp194Asn
XM_005259617.1:c.580G>A	XP_005259674.1:p.Asp194Asn
XM_005259618.3:c.580G>A	XP_005259675.1:p.Asp194Asn
XM_011528209.1:c.358G>A	XP_011526511.1:p.Asp120Asn
XR_936204.1:n.1205G>A
XM_005259617.3:c.580G>A	XP_005259674.1:p.Asp194Asn
XM_011528209.2:c.358G>A	XP_011526511.1:p.Asp120Asn
XR_001753738.2:n.1205G>A
XR_001753739.1:n.1205G>A
XR_001753740.2:n.1205G>A
NM_000455.5:c.580G>A MANE Select	NP_000446.1:p.Asp194Asn