Canonical Allele Identifier: CA487594056

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93684907G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218561G>T , CM000676.2:g.93218561G>T	GRCh38
NC_000014.8:g.93684907G>T , CM000676.1:g.93684907G>T	GRCh37
NC_000014.7:g.92754660G>T	NCBI36
NG_051089.1:g.16506G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.636G>T MANE Select	ENSP00000013070.6:p.Val212=
ENST00000013070.10:c.636G>T	ENSP00000013070.6:p.Val212=
ENST00000416753.5:c.408G>T	ENSP00000391706.2:p.Val136=
ENST00000553674.1:c.*337G>T	ENSP00000450470.1:n.*337G>T
ENST00000553857.5:c.378+3280G>T
ENST00000556871.5:c.345G>T	ENSP00000451022.1:p.Val115=
ENST00000557048.1:n.545G>T
NM_175748.3:c.636G>T	NP_786924.2:p.Val212=
NR_038150.1:n.738G>T
NM_175748.4:c.636G>T MANE Select	NP_786924.2:p.Val212=
NR_038150.2:n.538G>T