Canonical Allele Identifier: CA022577

Gene: STK11

Linked Data

• ClinVar Variation Id: 182920
• ClinVar RCV Id: RCV000161015 ; RCV000195803 ; RCV000213041
• dbSNP Id: rs730881992
• gnomAD v2: 19-1226618-G-A
• gnomAD v4: 19-1226619-G-A
• COSMIC: COSM327301
• MyVariant Identifiers: chr19:g.1226618G>A (hg19) ; chr19:g.1226619G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226619G>A , CM000681.2:g.1226619G>A	GRCh38
NC_000019.9:g.1226618G>A , CM000681.1:g.1226618G>A	GRCh37
NC_000019.8:g.1177618G>A	NCBI36
NG_007460.2:g.42213G>A , LRG_319:g.42213G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2875G>A	ENSP00000490268.2:n.*2875G>A
ENST00000585748.3:c.902G>A	ENSP00000477641.2:p.Arg301His
ENST00000585851.2:c.1100G>A	ENSP00000467912.2:p.Arg367His
ENST00000326873.12:c.1274G>A MANE Select	ENSP00000324856.6:p.Arg425His
ENST00000326873.11:c.1274G>A	ENSP00000324856.6:p.Arg425His
ENST00000585465.2:n.3007G>A
ENST00000586243.5:c.1271G>A	ENSP00000467240.2:p.Arg424His
ENST00000589152.5:n.1972G>A
NM_000455.4:c.1274G>A , LRG_319t1:c.1274G>A	NP_000446.1:p.Arg425His
XM_005259617.1:c.1269G>A	XP_005259674.1:p.Pro423=
XM_011528209.1:c.1047G>A	XP_011526511.1:p.Pro349=
XM_005259617.3:c.1269G>A	XP_005259674.1:p.Pro423=
XM_011528209.2:c.1047G>A	XP_011526511.1:p.Pro349=
XR_001753738.2:n.2080G>A
XR_001753740.2:n.2050G>A
NM_000455.5:c.1274G>A MANE Select	NP_000446.1:p.Arg425His