Canonical Allele Identifier: CA390810973

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93684972G>T (hg19) ; chr14:g.93218626G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218626G>T , CM000676.2:g.93218626G>T	GRCh38
NC_000014.8:g.93684972G>T , CM000676.1:g.93684972G>T	GRCh37
NC_000014.7:g.92754725G>T	NCBI36
NG_051089.1:g.16571G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.701G>T MANE Select	ENSP00000013070.6:p.Ser234Ile
ENST00000013070.10:c.701G>T	ENSP00000013070.6:p.Ser234Ile
ENST00000416753.5:c.473G>T	ENSP00000391706.2:p.Ser158Ile
ENST00000553674.1:c.*402G>T	ENSP00000450470.1:n.*402G>T
ENST00000553857.5:c.378+3345G>T
ENST00000556871.5:c.410G>T	ENSP00000451022.1:p.Ser137Ile
NM_175748.3:c.701G>T	NP_786924.2:p.Ser234Ile
NR_038150.1:n.803G>T
NM_175748.4:c.701G>T MANE Select	NP_786924.2:p.Ser234Ile
NR_038150.2:n.603G>T