Canonical Allele Identifier: CA390810718

Gene: UBR7

Linked Data

• gnomAD v4: 14-93218558-G-C
• MyVariant Identifiers: chr14:g.93684904G>C (hg19) ; chr14:g.93218558G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218558G>C , CM000676.2:g.93218558G>C	GRCh38
NC_000014.8:g.93684904G>C , CM000676.1:g.93684904G>C	GRCh37
NC_000014.7:g.92754657G>C	NCBI36
NG_051089.1:g.16503G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.633G>C MANE Select	ENSP00000013070.6:p.Leu211Phe
ENST00000013070.10:c.633G>C	ENSP00000013070.6:p.Leu211Phe
ENST00000416753.5:c.405G>C	ENSP00000391706.2:p.Leu135Phe
ENST00000553674.1:c.*334G>C	ENSP00000450470.1:n.*334G>C
ENST00000553857.5:c.378+3277G>C
ENST00000556871.5:c.342G>C	ENSP00000451022.1:p.Leu114Phe
ENST00000557048.1:n.542G>C
NM_175748.3:c.633G>C	NP_786924.2:p.Leu211Phe
NR_038150.1:n.735G>C
NM_175748.4:c.633G>C MANE Select	NP_786924.2:p.Leu211Phe
NR_038150.2:n.535G>C