Canonical Allele Identifier: CA390811122

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93685009T>G (hg19) ; chr14:g.93218663T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218663T>G , CM000676.2:g.93218663T>G	GRCh38
NC_000014.8:g.93685009T>G , CM000676.1:g.93685009T>G	GRCh37
NC_000014.7:g.92754762T>G	NCBI36
NG_051089.1:g.16608T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000013070.11:c.738T>G MANE Select	ENSP00000013070.6:p.Asp246Glu
ENST00000013070.10:c.738T>G	ENSP00000013070.6:p.Asp246Glu
ENST00000416753.5:c.510T>G	ENSP00000391706.2:p.Asp170Glu
ENST00000553674.1:c.*439T>G	ENSP00000450470.1:n.*439T>G
ENST00000553857.5:c.378+3382T>G
ENST00000556871.5:c.447T>G	ENSP00000451022.1:p.Asp149Glu
NM_175748.3:c.738T>G	NP_786924.2:p.Asp246Glu
NR_038150.1:n.840T>G
NM_175748.4:c.738T>G MANE Select	NP_786924.2:p.Asp246Glu
NR_038150.2:n.640T>G