Canonical Allele Identifier: CA402950320

Gene: STK11

Linked Data

• ClinVar Variation Id: 578378
• ClinVar RCV Id: RCV000701363
• dbSNP Id: rs1568709113
• MyVariant Identifiers: chr19:g.1221214A>G (hg19) ; chr19:g.1221215A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1221215A>G , CM000681.2:g.1221215A>G	GRCh38
NC_000019.9:g.1221214A>G , CM000681.1:g.1221214A>G	GRCh37
NC_000019.8:g.1172214A>G	NCBI36
NG_007460.2:g.36809A>G , LRG_319:g.36809A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.737A>G	ENSP00000490268.2:p.Tyr246Cys
ENST00000585748.3:c.365A>G	ENSP00000477641.2:p.Tyr122Cys
ENST00000585851.2:c.563A>G	ENSP00000467912.2:p.Tyr188Cys
ENST00000326873.12:c.737A>G MANE Select	ENSP00000324856.6:p.Tyr246Cys
ENST00000652231.1:c.737A>G	ENSP00000498804.1:p.Tyr246Cys
ENST00000326873.11:c.737A>G	ENSP00000324856.6:p.Tyr246Cys
ENST00000586243.5:c.737A>G	ENSP00000467240.2:p.Tyr246Cys
ENST00000586358.5:n.635A>G
ENST00000589152.5:n.827A>G
ENST00000591133.2:n.708A>G
NM_000455.4:c.737A>G , LRG_319t1:c.737A>G	NP_000446.1:p.Tyr246Cys
XM_005259617.1:c.737A>G	XP_005259674.1:p.Tyr246Cys
XM_005259618.3:c.737A>G	XP_005259675.1:p.Tyr246Cys
XM_011528209.1:c.515A>G	XP_011526511.1:p.Tyr172Cys
XR_936204.1:n.1362A>G
XM_005259617.3:c.737A>G	XP_005259674.1:p.Tyr246Cys
XM_011528209.2:c.515A>G	XP_011526511.1:p.Tyr172Cys
XR_001753738.2:n.1362A>G
XR_001753739.1:n.1362A>G
XR_001753740.2:n.1362A>G
NM_000455.5:c.737A>G MANE Select	NP_000446.1:p.Tyr246Cys