Canonical Allele Identifier: CA390810684

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93684888C>A (hg19) ; chr14:g.93218542C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218542C>A , CM000676.2:g.93218542C>A	GRCh38
NC_000014.8:g.93684888C>A , CM000676.1:g.93684888C>A	GRCh37
NC_000014.7:g.92754641C>A	NCBI36
NG_051089.1:g.16487C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.617C>A MANE Select	ENSP00000013070.6:p.Thr206Asn
ENST00000013070.10:c.617C>A	ENSP00000013070.6:p.Thr206Asn
ENST00000416753.5:c.389C>A	ENSP00000391706.2:p.Thr130Asn
ENST00000553674.1:c.*318C>A	ENSP00000450470.1:n.*318C>A
ENST00000553857.5:c.378+3261C>A
ENST00000554232.5:c.521C>A	ENSP00000450645.1:p.Thr174Asn
ENST00000556871.5:c.326C>A	ENSP00000451022.1:p.Thr109Asn
ENST00000557048.1:n.526C>A
NM_175748.3:c.617C>A	NP_786924.2:p.Thr206Asn
NR_038150.1:n.719C>A
NM_175748.4:c.617C>A MANE Select	NP_786924.2:p.Thr206Asn
NR_038150.2:n.519C>A