Canonical Allele Identifier: CA022363

Gene: STK11

Linked Data

• ClinVar Variation Id: 182918
• ClinVar RCV Id: RCV000161013 ; RCV000204343 ; RCV000235216 ; RCV001356849 ; RCV001197815 ; RCV001804887
• dbSNP Id: rs730881990
• ExAC: 19:1226492 G / A
• gnomAD v2: 19-1226492-G-A
• gnomAD v3: 19-1226493-G-A
• gnomAD v4: 19-1226493-G-A
• MyVariant Identifiers: chr19:g.1226492G>A (hg19) ; chr19:g.1226493G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226493G>A , CM000681.2:g.1226493G>A	GRCh38
NC_000019.9:g.1226492G>A , CM000681.1:g.1226492G>A	GRCh37
NC_000019.8:g.1177492G>A	NCBI36
NG_007460.2:g.42087G>A , LRG_319:g.42087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2749G>A	ENSP00000490268.2:n.*2749G>A
ENST00000585748.3:c.776G>A	ENSP00000477641.2:p.Arg259His
ENST00000585851.2:c.974G>A	ENSP00000467912.2:p.Arg325His
ENST00000326873.12:c.1148G>A MANE Select	ENSP00000324856.6:p.Arg383His
ENST00000326873.11:c.1148G>A	ENSP00000324856.6:p.Arg383His
ENST00000585465.2:n.2881G>A
ENST00000586243.5:c.1148G>A	ENSP00000467240.2:p.Arg383His
ENST00000589152.5:n.1846G>A
NM_000455.4:c.1148G>A , LRG_319t1:c.1148G>A	NP_000446.1:p.Arg383His
XM_005259617.1:c.1143G>A	XP_005259674.1:p.Ala381=
XM_011528209.1:c.921G>A	XP_011526511.1:p.Ala307=
XM_005259617.3:c.1143G>A	XP_005259674.1:p.Ala381=
XM_011528209.2:c.921G>A	XP_011526511.1:p.Ala307=
XR_001753738.2:n.1954G>A
XR_001753740.2:n.1924G>A
NM_000455.5:c.1148G>A MANE Select	NP_000446.1:p.Arg383His