Canonical Allele Identifier: CA16620759

Gene: STK11

Linked Data

• ClinVar Variation Id: 419151
• ClinVar RCV Id: RCV000479740
• dbSNP Id: rs558040549
• MyVariant Identifiers: chr19:g.1226534C>A (hg19) ; chr19:g.1226535C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226535C>A , CM000681.2:g.1226535C>A	GRCh38
NC_000019.9:g.1226534C>A , CM000681.1:g.1226534C>A	GRCh37
NC_000019.8:g.1177534C>A	NCBI36
NG_007460.2:g.42129C>A , LRG_319:g.42129C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.*2791C>A	ENSP00000490268.2:n.*2791C>A
ENST00000585748.3:c.818C>A	ENSP00000477641.2:p.Ala273Glu
ENST00000585851.2:c.1016C>A	ENSP00000467912.2:p.Ala339Glu
ENST00000326873.12:c.1190C>A MANE Select	ENSP00000324856.6:p.Ala397Glu
ENST00000326873.11:c.1190C>A	ENSP00000324856.6:p.Ala397Glu
ENST00000585465.2:n.2923C>A
ENST00000586243.5:c.1190C>A	ENSP00000467240.2:p.Ala397Glu
ENST00000589152.5:n.1888C>A
NM_000455.4:c.1190C>A , LRG_319t1:c.1190C>A	NP_000446.1:p.Ala397Glu
XM_005259617.1:c.1185C>A	XP_005259674.1:p.Gly395=
XM_011528209.1:c.963C>A	XP_011526511.1:p.Gly321=
XM_005259617.3:c.1185C>A	XP_005259674.1:p.Gly395=
XM_011528209.2:c.963C>A	XP_011526511.1:p.Gly321=
XR_001753738.2:n.1996C>A
XR_001753740.2:n.1966C>A
NM_000455.5:c.1190C>A MANE Select	NP_000446.1:p.Ala397Glu