Canonical Allele Identifier: CA023401

Gene: STK11

Linked Data

• ClinVar Variation Id: 142148
• ClinVar RCV Id: RCV000131004 ; RCV000206257
• dbSNP Id: rs587782267
• gnomAD v4: 19-1223062-G-A
• MyVariant Identifiers: chr19:g.1223061G>A (hg19) ; chr19:g.1223062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223062G>A , CM000681.2:g.1223062G>A	GRCh38
NC_000019.9:g.1223061G>A , CM000681.1:g.1223061G>A	GRCh37
NC_000019.8:g.1174061G>A	NCBI36
NG_007460.2:g.38656G>A , LRG_319:g.38656G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.998G>A	ENSP00000490268.2:p.Arg333His
ENST00000585748.3:c.626G>A	ENSP00000477641.2:p.Arg209His
ENST00000585851.2:c.824G>A	ENSP00000467912.2:p.Arg275His
ENST00000326873.12:c.998G>A MANE Select	ENSP00000324856.6:p.Arg333His
ENST00000652231.1:c.998G>A	ENSP00000498804.1:p.Arg333His
ENST00000326873.11:c.998G>A	ENSP00000324856.6:p.Arg333His
ENST00000586243.5:c.998G>A	ENSP00000467240.2:p.Arg333His
ENST00000589152.5:n.1696G>A
ENST00000591133.2:n.969G>A
NM_000455.4:c.998G>A , LRG_319t1:c.998G>A	NP_000446.1:p.Arg333His
XM_005259617.1:c.998G>A	XP_005259674.1:p.Arg333His
XM_005259618.3:c.998G>A	XP_005259675.1:p.Arg333His
XM_011528209.1:c.776G>A	XP_011526511.1:p.Arg259His
XR_936204.1:n.1774G>A
XM_005259617.3:c.998G>A	XP_005259674.1:p.Arg333His
XM_011528209.2:c.776G>A	XP_011526511.1:p.Arg259His
XR_001753738.2:n.1804G>A
XR_001753739.1:n.1804G>A
XR_001753740.2:n.1774G>A
NM_000455.5:c.998G>A MANE Select	NP_000446.1:p.Arg333His