Canonical Allele Identifier: CA390810652

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93684873T>C (hg19) ; chr14:g.93218527T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218527T>C , CM000676.2:g.93218527T>C	GRCh38
NC_000014.8:g.93684873T>C , CM000676.1:g.93684873T>C	GRCh37
NC_000014.7:g.92754626T>C	NCBI36
NG_051089.1:g.16472T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.602T>C MANE Select	ENSP00000013070.6:p.Val201Ala
ENST00000013070.10:c.602T>C	ENSP00000013070.6:p.Val201Ala
ENST00000416753.5:c.374T>C	ENSP00000391706.2:p.Val125Ala
ENST00000553674.1:c.*303T>C	ENSP00000450470.1:n.*303T>C
ENST00000553857.5:c.378+3246T>C
ENST00000554232.5:c.506T>C	ENSP00000450645.1:p.Val169Ala
ENST00000556871.5:c.311T>C	ENSP00000451022.1:p.Val104Ala
ENST00000557048.1:n.511T>C
NM_175748.3:c.602T>C	NP_786924.2:p.Val201Ala
NR_038150.1:n.704T>C
NM_175748.4:c.602T>C MANE Select	NP_786924.2:p.Val201Ala
NR_038150.2:n.504T>C