Canonical Allele Identifier: CA402948091

Gene: STK11

Linked Data

• ClinVar Variation Id: 646116
• ClinVar RCV Id: RCV000800341 ; RCV001021171
• dbSNP Id: rs1599925292
• gnomAD v4: 19-1219328-A-G
• MyVariant Identifiers: chr19:g.1219327A>G (hg19) ; chr19:g.1219328A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1219328A>G , CM000681.2:g.1219328A>G	GRCh38
NC_000019.9:g.1219327A>G , CM000681.1:g.1219327A>G	GRCh37
NC_000019.8:g.1170327A>G	NCBI36
NG_007460.2:g.34922A>G , LRG_319:g.34922A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.379A>G	ENSP00000490268.2:p.Met127Val
ENST00000585748.3:c.7A>G	ENSP00000477641.2:p.Met3Val
ENST00000585851.2:c.291-1045A>G	ENSP00000467912.2:n.291-1045A>G
ENST00000326873.12:c.379A>G MANE Select	ENSP00000324856.6:p.Met127Val
ENST00000652231.1:c.379A>G	ENSP00000498804.1:p.Met127Val
ENST00000326873.11:c.379A>G	ENSP00000324856.6:p.Met127Val
ENST00000585748.2:c.7A>G	ENSP00000477641.1:p.Met3Val
ENST00000585851.1:c.291-1045A>G	ENSP00000467912.1:n.291-1045A>G
ENST00000586243.5:c.379A>G	ENSP00000467240.2:p.Met127Val
ENST00000586358.5:n.202A>G
ENST00000589152.5:n.469A>G
ENST00000593219.5:c.*204A>G	ENSP00000466610.1:n.*204A>G
NM_000455.4:c.379A>G , LRG_319t1:c.379A>G	NP_000446.1:p.Met127Val
XM_005259617.1:c.379A>G	XP_005259674.1:p.Met127Val
XM_005259618.3:c.379A>G	XP_005259675.1:p.Met127Val
XM_011528209.1:c.157A>G	XP_011526511.1:p.Met53Val
XR_936204.1:n.1004A>G
XM_005259617.3:c.379A>G	XP_005259674.1:p.Met127Val
XM_011528209.2:c.157A>G	XP_011526511.1:p.Met53Val
XR_001753738.2:n.1004A>G
XR_001753739.1:n.1004A>G
XR_001753740.2:n.1004A>G
NM_000455.5:c.379A>G MANE Select	NP_000446.1:p.Met127Val