Canonical Allele Identifier: CA504708534

Gene: STK11

Linked Data

• dbSNP Id: rs1169106715
• gnomAD v4: 19-1226543-C-T
• COSMIC: COSM1390447 ; COSM5131515
• MyVariant Identifiers: chr19:g.1226542C>T (hg19) ; chr19:g.1226543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226543C>T , CM000681.2:g.1226543C>T	GRCh38
NC_000019.9:g.1226542C>T , CM000681.1:g.1226542C>T	GRCh37
NC_000019.8:g.1177542C>T	NCBI36
NG_007460.2:g.42137C>T , LRG_319:g.42137C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.*2799C>T	ENSP00000490268.2:n.*2799C>T
ENST00000585748.3:c.826C>T	ENSP00000477641.2:p.Leu276=
ENST00000585851.2:c.1024C>T	ENSP00000467912.2:p.Leu342=
ENST00000326873.12:c.1198C>T MANE Select	ENSP00000324856.6:p.Leu400=
ENST00000326873.11:c.1198C>T	ENSP00000324856.6:p.Leu400=
ENST00000585465.2:n.2931C>T
ENST00000586243.5:c.1198C>T	ENSP00000467240.2:p.Leu400=
ENST00000589152.5:n.1896C>T
NM_000455.4:c.1198C>T , LRG_319t1:c.1198C>T	NP_000446.1:p.Leu400=
XM_005259617.1:c.1193C>T	XP_005259674.1:p.Ala398Val
XM_011528209.1:c.971C>T	XP_011526511.1:p.Ala324Val
XM_005259617.3:c.1193C>T	XP_005259674.1:p.Ala398Val
XM_011528209.2:c.971C>T	XP_011526511.1:p.Ala324Val
XR_001753738.2:n.2004C>T
XR_001753740.2:n.1974C>T
NM_000455.5:c.1198C>T MANE Select	NP_000446.1:p.Leu400=