Canonical Allele Identifier: CA402953866

Gene: STK11

Linked Data

• ClinVar Variation Id: 657880
• ClinVar RCV Id: RCV000814590 ; RCV002363118 ; RCV003461225
• dbSNP Id: rs372329880
• gnomAD v4: 19-1226574-C-A
• MyVariant Identifiers: chr19:g.1226573C>A (hg19) ; chr19:g.1226574C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226574C>A , CM000681.2:g.1226574C>A	GRCh38
NC_000019.9:g.1226573C>A , CM000681.1:g.1226573C>A	GRCh37
NC_000019.8:g.1177573C>A	NCBI36
NG_007460.2:g.42168C>A , LRG_319:g.42168C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2830C>A	ENSP00000490268.2:n.*2830C>A
ENST00000585748.3:c.857C>A	ENSP00000477641.2:p.Ala286Asp
ENST00000585851.2:c.1055C>A	ENSP00000467912.2:p.Ala352Asp
ENST00000326873.12:c.1229C>A MANE Select	ENSP00000324856.6:p.Ala410Asp
ENST00000326873.11:c.1229C>A	ENSP00000324856.6:p.Ala410Asp
ENST00000585465.2:n.2962C>A
ENST00000586243.5:c.1228C>A	ENSP00000467240.2:p.Pro410Thr
ENST00000589152.5:n.1927C>A
NM_000455.4:c.1229C>A , LRG_319t1:c.1229C>A	NP_000446.1:p.Ala410Asp
XM_005259617.1:c.1224C>A	XP_005259674.1:p.Gly408=
XM_011528209.1:c.1002C>A	XP_011526511.1:p.Gly334=
XM_005259617.3:c.1224C>A	XP_005259674.1:p.Gly408=
XM_011528209.2:c.1002C>A	XP_011526511.1:p.Gly334=
XR_001753738.2:n.2035C>A
XR_001753740.2:n.2005C>A
NM_000455.5:c.1229C>A MANE Select	NP_000446.1:p.Ala410Asp