Canonical Allele Identifier: CA304033616

Gene: STK11

Linked Data

• ClinVar Variation Id: 630401
• ClinVar RCV Id: RCV000775665 ; RCV000801087 ; RCV003442066
• dbSNP Id: rs747545317
• gnomAD v4: 19-1226544-T-A
• MyVariant Identifiers: chr19:g.1226543T>A (hg19) ; chr19:g.1226544T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226544T>A , CM000681.2:g.1226544T>A	GRCh38
NC_000019.9:g.1226543T>A , CM000681.1:g.1226543T>A	GRCh37
NC_000019.8:g.1177543T>A	NCBI36
NG_007460.2:g.42138T>A , LRG_319:g.42138T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2800T>A	ENSP00000490268.2:n.*2800T>A
ENST00000585748.3:c.827T>A	ENSP00000477641.2:p.Leu276Gln
ENST00000585851.2:c.1025T>A	ENSP00000467912.2:p.Leu342Gln
ENST00000326873.12:c.1199T>A MANE Select	ENSP00000324856.6:p.Leu400Gln
ENST00000326873.11:c.1199T>A	ENSP00000324856.6:p.Leu400Gln
ENST00000585465.2:n.2932T>A
ENST00000586243.5:c.1199T>A	ENSP00000467240.2:p.Leu400Gln
ENST00000589152.5:n.1897T>A
NM_000455.4:c.1199T>A , LRG_319t1:c.1199T>A	NP_000446.1:p.Leu400Gln
XM_005259617.1:c.1194T>A	XP_005259674.1:p.Ala398=
XM_011528209.1:c.972T>A	XP_011526511.1:p.Ala324=
XM_005259617.3:c.1194T>A	XP_005259674.1:p.Ala398=
XM_011528209.2:c.972T>A	XP_011526511.1:p.Ala324=
XR_001753738.2:n.2005T>A
XR_001753740.2:n.1975T>A
NM_000455.5:c.1199T>A MANE Select	NP_000446.1:p.Leu400Gln