Canonical Allele Identifier: CA022240

Gene: STK11

Linked Data

• ClinVar Variation Id: 184351
• ClinVar RCV Id: RCV000163584 ; RCV000206154 ; RCV003477595
• dbSNP Id: rs768217700
• ExAC: 19:1223119 C / T
• gnomAD v2: 19-1223119-C-T
• gnomAD v4: 19-1223120-C-T
• MyVariant Identifiers: chr19:g.1223119C>T (hg19) ; chr19:g.1223120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223120C>T , CM000681.2:g.1223120C>T	GRCh38
NC_000019.9:g.1223119C>T , CM000681.1:g.1223119C>T	GRCh37
NC_000019.8:g.1174119C>T	NCBI36
NG_007460.2:g.38714C>T , LRG_319:g.38714C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1056C>T	ENSP00000490268.2:p.Asp352=
ENST00000585748.3:c.684C>T	ENSP00000477641.2:p.Asp228=
ENST00000585851.2:c.882C>T	ENSP00000467912.2:p.Asp294=
ENST00000326873.12:c.1056C>T MANE Select	ENSP00000324856.6:p.Asp352=
ENST00000652231.1:c.1056C>T	ENSP00000498804.1:p.Asp352=
ENST00000326873.11:c.1056C>T	ENSP00000324856.6:p.Asp352=
ENST00000586243.5:c.1056C>T	ENSP00000467240.2:p.Asp352=
ENST00000589152.5:n.1754C>T
NM_000455.4:c.1056C>T , LRG_319t1:c.1056C>T	NP_000446.1:p.Asp352=
XM_005259617.1:c.1056C>T	XP_005259674.1:p.Asp352=
XM_005259618.3:c.1056C>T	XP_005259675.1:p.Asp352=
XM_011528209.1:c.834C>T	XP_011526511.1:p.Asp278=
XR_936204.1:n.1832C>T
XM_005259617.3:c.1056C>T	XP_005259674.1:p.Asp352=
XM_011528209.2:c.834C>T	XP_011526511.1:p.Asp278=
XR_001753738.2:n.1862C>T
XR_001753739.1:n.1862C>T
XR_001753740.2:n.1832C>T
NM_000455.5:c.1056C>T MANE Select	NP_000446.1:p.Asp352=