Canonical Allele Identifier: CA390811076

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93684998C>T (hg19) ; chr14:g.93218652C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218652C>T , CM000676.2:g.93218652C>T	GRCh38
NC_000014.8:g.93684998C>T , CM000676.1:g.93684998C>T	GRCh37
NC_000014.7:g.92754751C>T	NCBI36
NG_051089.1:g.16597C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000013070.11:c.727C>T MANE Select	ENSP00000013070.6:p.Gln243Ter
ENST00000013070.10:c.727C>T	ENSP00000013070.6:p.Gln243Ter
ENST00000416753.5:c.499C>T	ENSP00000391706.2:p.Gln167Ter
ENST00000553674.1:c.*428C>T	ENSP00000450470.1:n.*428C>T
ENST00000553857.5:c.378+3371C>T
ENST00000556871.5:c.436C>T	ENSP00000451022.1:p.Gln146Ter
NM_175748.3:c.727C>T	NP_786924.2:p.Gln243Ter
NR_038150.1:n.829C>T
NM_175748.4:c.727C>T MANE Select	NP_786924.2:p.Gln243Ter
NR_038150.2:n.629C>T