Canonical Allele Identifier: CA390810687

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93684890G>A (hg19) ; chr14:g.93218544G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218544G>A , CM000676.2:g.93218544G>A	GRCh38
NC_000014.8:g.93684890G>A , CM000676.1:g.93684890G>A	GRCh37
NC_000014.7:g.92754643G>A	NCBI36
NG_051089.1:g.16489G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.619G>A MANE Select	ENSP00000013070.6:p.Glu207Lys
ENST00000013070.10:c.619G>A	ENSP00000013070.6:p.Glu207Lys
ENST00000416753.5:c.391G>A	ENSP00000391706.2:p.Glu131Lys
ENST00000553674.1:c.*320G>A	ENSP00000450470.1:n.*320G>A
ENST00000553857.5:c.378+3263G>A
ENST00000554232.5:c.523G>A	ENSP00000450645.1:p.Glu175Lys
ENST00000556871.5:c.328G>A	ENSP00000451022.1:p.Glu110Lys
ENST00000557048.1:n.528G>A
NM_175748.3:c.619G>A	NP_786924.2:p.Glu207Lys
NR_038150.1:n.721G>A
NM_175748.4:c.619G>A MANE Select	NP_786924.2:p.Glu207Lys
NR_038150.2:n.521G>A