Canonical Allele Identifier: CA390811103

Gene: UBR7

Linked Data

• dbSNP Id: rs1894641238
• MyVariant Identifiers: chr14:g.93685005A>G (hg19) ; chr14:g.93218659A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218659A>G , CM000676.2:g.93218659A>G	GRCh38
NC_000014.8:g.93685005A>G , CM000676.1:g.93685005A>G	GRCh37
NC_000014.7:g.92754758A>G	NCBI36
NG_051089.1:g.16604A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.734A>G MANE Select	ENSP00000013070.6:p.Lys245Arg
ENST00000013070.10:c.734A>G	ENSP00000013070.6:p.Lys245Arg
ENST00000416753.5:c.506A>G	ENSP00000391706.2:p.Lys169Arg
ENST00000553674.1:c.*435A>G	ENSP00000450470.1:n.*435A>G
ENST00000553857.5:c.378+3378A>G
ENST00000556871.5:c.443A>G	ENSP00000451022.1:p.Lys148Arg
NM_175748.3:c.734A>G	NP_786924.2:p.Lys245Arg
NR_038150.1:n.836A>G
NM_175748.4:c.734A>G MANE Select	NP_786924.2:p.Lys245Arg
NR_038150.2:n.636A>G