Canonical Allele Identifier: CA047166

Gene: STK11

Linked Data

• ClinVar Variation Id: 219451
• ClinVar RCV Id: RCV000205670 ; RCV000564055 ; RCV001356672 ; RCV003491952
• dbSNP Id: rs545015076
• ExAC: 19:1218480 A / G
• gnomAD v2: 19-1218480-A-G
• gnomAD v3: 19-1218481-A-G
• gnomAD v4: 19-1218481-A-G
• MyVariant Identifiers: chr19:g.1218480A>G (hg19) ; chr19:g.1218481A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1218481A>G , CM000681.2:g.1218481A>G	GRCh38
NC_000019.9:g.1218480A>G , CM000681.1:g.1218480A>G	GRCh37
NC_000019.8:g.1169480A>G	NCBI36
NG_007460.2:g.34075A>G , LRG_319:g.34075A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.355A>G	ENSP00000490268.2:p.Asn119Asp
ENST00000585748.3:c.-18A>G	ENSP00000477641.2:n.-18A>G
ENST00000585851.2:c.291-1892A>G	ENSP00000467912.2:n.291-1892A>G
ENST00000326873.12:c.355A>G MANE Select	ENSP00000324856.6:p.Asn119Asp
ENST00000652231.1:c.355A>G	ENSP00000498804.1:p.Asn119Asp
ENST00000326873.11:c.355A>G	ENSP00000324856.6:p.Asn119Asp
ENST00000585748.2:c.-18A>G	ENSP00000477641.1:n.-18A>G
ENST00000585851.1:c.291-1892A>G	ENSP00000467912.1:n.291-1892A>G
ENST00000586243.5:c.355A>G	ENSP00000467240.2:p.Asn119Asp
ENST00000586358.5:n.178A>G
ENST00000589152.5:n.445A>G
ENST00000593219.5:c.*180A>G	ENSP00000466610.1:n.*180A>G
NM_000455.4:c.355A>G , LRG_319t1:c.355A>G	NP_000446.1:p.Asn119Asp
XM_005259617.1:c.355A>G	XP_005259674.1:p.Asn119Asp
XM_005259618.3:c.355A>G	XP_005259675.1:p.Asn119Asp
XM_011528209.1:c.133A>G	XP_011526511.1:p.Asn45Asp
XR_936204.1:n.980A>G
XM_005259617.3:c.355A>G	XP_005259674.1:p.Asn119Asp
XM_011528209.2:c.133A>G	XP_011526511.1:p.Asn45Asp
XR_001753738.2:n.980A>G
XR_001753739.1:n.980A>G
XR_001753740.2:n.980A>G
NM_000455.5:c.355A>G MANE Select	NP_000446.1:p.Asn119Asp