Canonical Allele Identifier: CA390811617

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93685080A>T (hg19) ; chr14:g.93218734A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218734A>T , CM000676.2:g.93218734A>T	GRCh38
NC_000014.8:g.93685080A>T , CM000676.1:g.93685080A>T	GRCh37
NC_000014.7:g.92754833A>T	NCBI36
NG_051089.1:g.16679A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.809A>T MANE Select	ENSP00000013070.6:p.Gln270Leu
ENST00000013070.10:c.809A>T	ENSP00000013070.6:p.Gln270Leu
ENST00000416753.5:c.581A>T	ENSP00000391706.2:p.Gln194Leu
ENST00000553674.1:c.*510A>T	ENSP00000450470.1:n.*510A>T
ENST00000553857.5:c.378+3453A>T
ENST00000555329.1:c.54A>T
NM_175748.3:c.809A>T	NP_786924.2:p.Gln270Leu
NR_038150.1:n.911A>T
NM_175748.4:c.809A>T MANE Select	NP_786924.2:p.Gln270Leu
NR_038150.2:n.711A>T