Canonical Allele Identifier: CA023286

Gene: STK11

Linked Data

• ClinVar Variation Id: 139336
• ClinVar RCV Id: RCV000129143 ; RCV000200552 ; RCV000213020 ; RCV000759361 ; RCV003149875
• dbSNP Id: rs202011521
• ExAC: 19:1221302 G / A
• gnomAD v2: 19-1221302-G-A
• gnomAD v3: 19-1221303-G-A
• gnomAD v4: 19-1221303-G-A
• MyVariant Identifiers: chr19:g.1221302G>A (hg19) ; chr19:g.1221303G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1221303G>A , CM000681.2:g.1221303G>A	GRCh38
NC_000019.9:g.1221302G>A , CM000681.1:g.1221302G>A	GRCh37
NC_000019.8:g.1172302G>A	NCBI36
NG_007460.2:g.36897G>A , LRG_319:g.36897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.825G>A	ENSP00000490268.2:p.Pro275=
ENST00000585748.3:c.453G>A	ENSP00000477641.2:p.Pro151=
ENST00000585851.2:c.651G>A	ENSP00000467912.2:p.Pro217=
ENST00000326873.12:c.825G>A MANE Select	ENSP00000324856.6:p.Pro275=
ENST00000652231.1:c.825G>A	ENSP00000498804.1:p.Pro275=
ENST00000326873.11:c.825G>A	ENSP00000324856.6:p.Pro275=
ENST00000586243.5:c.825G>A	ENSP00000467240.2:p.Pro275=
ENST00000586358.5:n.723G>A
ENST00000589152.5:n.915G>A
ENST00000591133.2:n.796G>A
NM_000455.4:c.825G>A , LRG_319t1:c.825G>A	NP_000446.1:p.Pro275=
XM_005259617.1:c.825G>A	XP_005259674.1:p.Pro275=
XM_005259618.3:c.825G>A	XP_005259675.1:p.Pro275=
XM_011528209.1:c.603G>A	XP_011526511.1:p.Pro201=
XR_936204.1:n.1450G>A
XM_005259617.3:c.825G>A	XP_005259674.1:p.Pro275=
XM_011528209.2:c.603G>A	XP_011526511.1:p.Pro201=
XR_001753738.2:n.1450G>A
XR_001753739.1:n.1450G>A
XR_001753740.2:n.1450G>A
NM_000455.5:c.825G>A MANE Select	NP_000446.1:p.Pro275=