Canonical Allele Identifier: CA022499

Gene: STK11

Linked Data

• ClinVar Variation Id: 142292
• ClinVar RCV Id: RCV000131326 ; RCV000197480 ; RCV000487216 ; RCV000657038
• dbSNP Id: rs587782364
• ExAC: 19:1226570 G / A
• gnomAD v2: 19-1226570-G-A
• gnomAD v3: 19-1226571-G-A
• gnomAD v4: 19-1226571-G-A
• COSMIC: COSM1390448 ; COSM3692366
• MyVariant Identifiers: chr19:g.1226570G>A (hg19) ; chr19:g.1226571G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226571G>A , CM000681.2:g.1226571G>A	GRCh38
NC_000019.9:g.1226570G>A , CM000681.1:g.1226570G>A	GRCh37
NC_000019.8:g.1177570G>A	NCBI36
NG_007460.2:g.42165G>A , LRG_319:g.42165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2827G>A	ENSP00000490268.2:n.*2827G>A
ENST00000585748.3:c.854G>A	ENSP00000477641.2:p.Arg285Gln
ENST00000585851.2:c.1052G>A	ENSP00000467912.2:p.Arg351Gln
ENST00000326873.12:c.1226G>A MANE Select	ENSP00000324856.6:p.Arg409Gln
ENST00000326873.11:c.1226G>A	ENSP00000324856.6:p.Arg409Gln
ENST00000585465.2:n.2959G>A
ENST00000586243.5:c.1225G>A	ENSP00000467240.2:p.Gly409Arg
ENST00000589152.5:n.1924G>A
NM_000455.4:c.1226G>A , LRG_319t1:c.1226G>A	NP_000446.1:p.Arg409Gln
XM_005259617.1:c.1221G>A	XP_005259674.1:p.Pro407=
XM_011528209.1:c.999G>A	XP_011526511.1:p.Pro333=
XM_005259617.3:c.1221G>A	XP_005259674.1:p.Pro407=
XM_011528209.2:c.999G>A	XP_011526511.1:p.Pro333=
XR_001753738.2:n.2032G>A
XR_001753740.2:n.2002G>A
NM_000455.5:c.1226G>A MANE Select	NP_000446.1:p.Arg409Gln