Canonical Allele Identifier: CA390810776

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93684924T>A (hg19) ; chr14:g.93218578T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218578T>A , CM000676.2:g.93218578T>A	GRCh38
NC_000014.8:g.93684924T>A , CM000676.1:g.93684924T>A	GRCh37
NC_000014.7:g.92754677T>A	NCBI36
NG_051089.1:g.16523T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.653T>A MANE Select	ENSP00000013070.6:p.Ile218Lys
ENST00000013070.10:c.653T>A	ENSP00000013070.6:p.Ile218Lys
ENST00000416753.5:c.425T>A	ENSP00000391706.2:p.Ile142Lys
ENST00000553674.1:c.*354T>A	ENSP00000450470.1:n.*354T>A
ENST00000553857.5:c.378+3297T>A
ENST00000556871.5:c.362T>A	ENSP00000451022.1:p.Ile121Lys
ENST00000557048.1:n.562T>A
NM_175748.3:c.653T>A	NP_786924.2:p.Ile218Lys
NR_038150.1:n.755T>A
NM_175748.4:c.653T>A MANE Select	NP_786924.2:p.Ile218Lys
NR_038150.2:n.555T>A