Canonical Allele Identifier: CA406714473

Gene: DBP

Linked Data

• COSMIC: COSM5390250
• MyVariant Identifiers: chr19:g.49136708T>A (hg19) ; chr19:g.48633451T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48633451T>A , CM000681.2:g.48633451T>A	GRCh38
NC_000019.9:g.49136708T>A , CM000681.1:g.49136708T>A	GRCh37
NC_000019.8:g.53828520T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222122.10:c.755A>T MANE Select	ENSP00000222122.4:p.Glu252Val
ENST00000222122.9:c.755A>T	ENSP00000222122.4:p.Glu252Val
ENST00000593500.1:c.149A>T	ENSP00000471220.1:p.Glu50Val
ENST00000594723.1:n.2998A>T
ENST00000599385.5:c.149A>T	ENSP00000469426.1:p.Glu50Val
ENST00000601104.1:c.755A>T	ENSP00000469291.1:p.Glu252Val
NM_001352.4:c.755A>T	NP_001343.2:p.Glu252Val
XM_017026388.2:c.326A>T	XP_016881877.1:p.Glu109Val
XR_243907.4:n.1660A>T
NM_001352.5:c.755A>T MANE Select	NP_001343.2:p.Glu252Val