Canonical Allele Identifier: CA402953199

Gene: STK11

Linked Data

• ClinVar Variation Id: 2810312
• ClinVar RCV Id: RCV003618377
• MyVariant Identifiers: chr19:g.1226468A>C (hg19) ; chr19:g.1226469A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226469A>C , CM000681.2:g.1226469A>C	GRCh38
NC_000019.9:g.1226468A>C , CM000681.1:g.1226468A>C	GRCh37
NC_000019.8:g.1177468A>C	NCBI36
NG_007460.2:g.42063A>C , LRG_319:g.42063A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2725A>C	ENSP00000490268.2:n.*2725A>C
ENST00000585748.3:c.752A>C	ENSP00000477641.2:p.Glu251Ala
ENST00000585851.2:c.950A>C	ENSP00000467912.2:p.Glu317Ala
ENST00000326873.12:c.1124A>C MANE Select	ENSP00000324856.6:p.Glu375Ala
ENST00000326873.11:c.1124A>C	ENSP00000324856.6:p.Glu375Ala
ENST00000585465.2:n.2857A>C
ENST00000586243.5:c.1124A>C	ENSP00000467240.2:p.Glu375Ala
ENST00000589152.5:n.1822A>C
NM_000455.4:c.1124A>C , LRG_319t1:c.1124A>C	NP_000446.1:p.Glu375Ala
XM_005259617.1:c.1119A>C	XP_005259674.1:p.Arg373Ser
XM_011528209.1:c.897A>C	XP_011526511.1:p.Arg299Ser
XM_005259617.3:c.1119A>C	XP_005259674.1:p.Arg373Ser
XM_011528209.2:c.897A>C	XP_011526511.1:p.Arg299Ser
XR_001753738.2:n.1930A>C
XR_001753740.2:n.1900A>C
NM_000455.5:c.1124A>C MANE Select	NP_000446.1:p.Glu375Ala