Canonical Allele Identifier: CA487594119

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93685015C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218669C>T , CM000676.2:g.93218669C>T	GRCh38
NC_000014.8:g.93685015C>T , CM000676.1:g.93685015C>T	GRCh37
NC_000014.7:g.92754768C>T	NCBI36
NG_051089.1:g.16614C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.744C>T MANE Select	ENSP00000013070.6:p.Val248=
ENST00000013070.10:c.744C>T	ENSP00000013070.6:p.Val248=
ENST00000416753.5:c.516C>T	ENSP00000391706.2:p.Val172=
ENST00000553674.1:c.*445C>T	ENSP00000450470.1:n.*445C>T
ENST00000553857.5:c.378+3388C>T
ENST00000556871.5:c.453C>T	ENSP00000451022.1:p.Val151=
NM_175748.3:c.744C>T	NP_786924.2:p.Val248=
NR_038150.1:n.846C>T
NM_175748.4:c.744C>T MANE Select	NP_786924.2:p.Val248=
NR_038150.2:n.646C>T