Canonical Allele Identifier: CA390810885

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93684948C>G (hg19) ; chr14:g.93218602C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218602C>G , CM000676.2:g.93218602C>G	GRCh38
NC_000014.8:g.93684948C>G , CM000676.1:g.93684948C>G	GRCh37
NC_000014.7:g.92754701C>G	NCBI36
NG_051089.1:g.16547C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.677C>G MANE Select	ENSP00000013070.6:p.Pro226Arg
ENST00000013070.10:c.677C>G	ENSP00000013070.6:p.Pro226Arg
ENST00000416753.5:c.449C>G	ENSP00000391706.2:p.Pro150Arg
ENST00000553674.1:c.*378C>G	ENSP00000450470.1:n.*378C>G
ENST00000553857.5:c.378+3321C>G
ENST00000556871.5:c.386C>G	ENSP00000451022.1:p.Pro129Arg
NM_175748.3:c.677C>G	NP_786924.2:p.Pro226Arg
NR_038150.1:n.779C>G
NM_175748.4:c.677C>G MANE Select	NP_786924.2:p.Pro226Arg
NR_038150.2:n.579C>G