Canonical Allele Identifier: CA16616036

Gene: STK11

Linked Data

• ClinVar Variation Id: 403791
• ClinVar RCV Id: RCV000458053 ; RCV000579669 ; RCV000765434
• dbSNP Id: rs1060499968
• gnomAD v2: 19-1226539-C-A
• gnomAD v4: 19-1226540-C-A
• MyVariant Identifiers: chr19:g.1226539C>A (hg19) ; chr19:g.1226540C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226540C>A , CM000681.2:g.1226540C>A	GRCh38
NC_000019.9:g.1226539C>A , CM000681.1:g.1226539C>A	GRCh37
NC_000019.8:g.1177539C>A	NCBI36
NG_007460.2:g.42134C>A , LRG_319:g.42134C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2796C>A	ENSP00000490268.2:n.*2796C>A
ENST00000585748.3:c.823C>A	ENSP00000477641.2:p.Gln275Lys
ENST00000585851.2:c.1021C>A	ENSP00000467912.2:p.Gln341Lys
ENST00000326873.12:c.1195C>A MANE Select	ENSP00000324856.6:p.Gln399Lys
ENST00000326873.11:c.1195C>A	ENSP00000324856.6:p.Gln399Lys
ENST00000585465.2:n.2928C>A
ENST00000586243.5:c.1195C>A	ENSP00000467240.2:p.Gln399Lys
ENST00000589152.5:n.1893C>A
NM_000455.4:c.1195C>A , LRG_319t1:c.1195C>A	NP_000446.1:p.Gln399Lys
XM_005259617.1:c.1190C>A	XP_005259674.1:p.Ala397Glu
XM_011528209.1:c.968C>A	XP_011526511.1:p.Ala323Glu
XM_005259617.3:c.1190C>A	XP_005259674.1:p.Ala397Glu
XM_011528209.2:c.968C>A	XP_011526511.1:p.Ala323Glu
XR_001753738.2:n.2001C>A
XR_001753740.2:n.1971C>A
NM_000455.5:c.1195C>A MANE Select	NP_000446.1:p.Gln399Lys