Canonical Allele Identifier: CA390811118

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93685008A>T (hg19) ; chr14:g.93218662A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218662A>T , CM000676.2:g.93218662A>T	GRCh38
NC_000014.8:g.93685008A>T , CM000676.1:g.93685008A>T	GRCh37
NC_000014.7:g.92754761A>T	NCBI36
NG_051089.1:g.16607A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000013070.11:c.737A>T MANE Select	ENSP00000013070.6:p.Asp246Val
ENST00000013070.10:c.737A>T	ENSP00000013070.6:p.Asp246Val
ENST00000416753.5:c.509A>T	ENSP00000391706.2:p.Asp170Val
ENST00000553674.1:c.*438A>T	ENSP00000450470.1:n.*438A>T
ENST00000553857.5:c.378+3381A>T
ENST00000556871.5:c.446A>T	ENSP00000451022.1:p.Asp149Val
NM_175748.3:c.737A>T	NP_786924.2:p.Asp246Val
NR_038150.1:n.839A>T
NM_175748.4:c.737A>T MANE Select	NP_786924.2:p.Asp246Val
NR_038150.2:n.639A>T