Canonical Allele Identifier: CA390810688

Gene: UBR7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.619G>C MANE Select	ENSP00000013070.6:p.Glu207Gln
ENST00000013070.10:c.619G>C	ENSP00000013070.6:p.Glu207Gln
ENST00000416753.5:c.391G>C	ENSP00000391706.2:p.Glu131Gln
ENST00000553674.1:c.*320G>C	ENSP00000450470.1:n.*320G>C
ENST00000553857.5:c.378+3263G>C
ENST00000554232.5:c.523G>C	ENSP00000450645.1:p.Glu175Gln
ENST00000556871.5:c.328G>C	ENSP00000451022.1:p.Glu110Gln
ENST00000557048.1:n.528G>C
NM_175748.3:c.619G>C	NP_786924.2:p.Glu207Gln
NR_038150.1:n.721G>C
NM_175748.4:c.619G>C MANE Select	NP_786924.2:p.Glu207Gln
NR_038150.2:n.521G>C