Canonical Allele Identifier: CA044997

Gene: STK11

Linked Data

• ClinVar Variation Id: 527828
• ClinVar RCV Id: RCV000632825 ; RCV001009829
• dbSNP Id: rs772963844
• ExAC: 19:1223129 A / G
• gnomAD v2: 19-1223129-A-G
• gnomAD v4: 19-1223130-A-G
• MyVariant Identifiers: chr19:g.1223129A>G (hg19) ; chr19:g.1223130A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223130A>G , CM000681.2:g.1223130A>G	GRCh38
NC_000019.9:g.1223129A>G , CM000681.1:g.1223129A>G	GRCh37
NC_000019.8:g.1174129A>G	NCBI36
NG_007460.2:g.38724A>G , LRG_319:g.38724A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1066A>G	ENSP00000490268.2:p.Ile356Val
ENST00000585748.3:c.694A>G	ENSP00000477641.2:p.Ile232Val
ENST00000585851.2:c.892A>G	ENSP00000467912.2:p.Ile298Val
ENST00000326873.12:c.1066A>G MANE Select	ENSP00000324856.6:p.Ile356Val
ENST00000652231.1:c.1066A>G	ENSP00000498804.1:p.Ile356Val
ENST00000326873.11:c.1066A>G	ENSP00000324856.6:p.Ile356Val
ENST00000586243.5:c.1066A>G	ENSP00000467240.2:p.Ile356Val
ENST00000589152.5:n.1764A>G
NM_000455.4:c.1066A>G , LRG_319t1:c.1066A>G	NP_000446.1:p.Ile356Val
XM_005259617.1:c.1066A>G	XP_005259674.1:p.Ile356Val
XM_005259618.3:c.1066A>G	XP_005259675.1:p.Ile356Val
XM_011528209.1:c.844A>G	XP_011526511.1:p.Ile282Val
XR_936204.1:n.1842A>G
XM_005259617.3:c.1066A>G	XP_005259674.1:p.Ile356Val
XM_011528209.2:c.844A>G	XP_011526511.1:p.Ile282Val
XR_001753738.2:n.1872A>G
XR_001753739.1:n.1872A>G
XR_001753740.2:n.1842A>G
NM_000455.5:c.1066A>G MANE Select	NP_000446.1:p.Ile356Val