Canonical Allele Identifier: CA390810716

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93684903T>A (hg19) ; chr14:g.93218557T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218557T>A , CM000676.2:g.93218557T>A	GRCh38
NC_000014.8:g.93684903T>A , CM000676.1:g.93684903T>A	GRCh37
NC_000014.7:g.92754656T>A	NCBI36
NG_051089.1:g.16502T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.632T>A MANE Select	ENSP00000013070.6:p.Leu211Ter
ENST00000013070.10:c.632T>A	ENSP00000013070.6:p.Leu211Ter
ENST00000416753.5:c.404T>A	ENSP00000391706.2:p.Leu135Ter
ENST00000553674.1:c.*333T>A	ENSP00000450470.1:n.*333T>A
ENST00000553857.5:c.378+3276T>A
ENST00000554232.5:c.536T>A
ENST00000556871.5:c.341T>A	ENSP00000451022.1:p.Leu114Ter
ENST00000557048.1:n.541T>A
NM_175748.3:c.632T>A	NP_786924.2:p.Leu211Ter
NR_038150.1:n.734T>A
NM_175748.4:c.632T>A MANE Select	NP_786924.2:p.Leu211Ter
NR_038150.2:n.534T>A