Canonical Allele Identifier: CA390810674

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93684882T>G (hg19) ; chr14:g.93218536T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218536T>G , CM000676.2:g.93218536T>G	GRCh38
NC_000014.8:g.93684882T>G , CM000676.1:g.93684882T>G	GRCh37
NC_000014.7:g.92754635T>G	NCBI36
NG_051089.1:g.16481T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.611T>G MANE Select	ENSP00000013070.6:p.Ile204Arg
ENST00000013070.10:c.611T>G	ENSP00000013070.6:p.Ile204Arg
ENST00000416753.5:c.383T>G	ENSP00000391706.2:p.Ile128Arg
ENST00000553674.1:c.*312T>G	ENSP00000450470.1:n.*312T>G
ENST00000553857.5:c.378+3255T>G
ENST00000554232.5:c.515T>G	ENSP00000450645.1:p.Ile172Arg
ENST00000556871.5:c.320T>G	ENSP00000451022.1:p.Ile107Arg
ENST00000557048.1:n.520T>G
NM_175748.3:c.611T>G	NP_786924.2:p.Ile204Arg
NR_038150.1:n.713T>G
NM_175748.4:c.611T>G MANE Select	NP_786924.2:p.Ile204Arg
NR_038150.2:n.513T>G