Canonical Allele Identifier: CA390810675

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93684883A>G (hg19) ; chr14:g.93218537A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218537A>G , CM000676.2:g.93218537A>G	GRCh38
NC_000014.8:g.93684883A>G , CM000676.1:g.93684883A>G	GRCh37
NC_000014.7:g.92754636A>G	NCBI36
NG_051089.1:g.16482A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.612A>G MANE Select	ENSP00000013070.6:p.Ile204Met
ENST00000013070.10:c.612A>G	ENSP00000013070.6:p.Ile204Met
ENST00000416753.5:c.384A>G	ENSP00000391706.2:p.Ile128Met
ENST00000553674.1:c.*313A>G	ENSP00000450470.1:n.*313A>G
ENST00000553857.5:c.378+3256A>G
ENST00000554232.5:c.516A>G	ENSP00000450645.1:p.Ile172Met
ENST00000556871.5:c.321A>G	ENSP00000451022.1:p.Ile107Met
ENST00000557048.1:n.521A>G
NM_175748.3:c.612A>G	NP_786924.2:p.Ile204Met
NR_038150.1:n.714A>G
NM_175748.4:c.612A>G MANE Select	NP_786924.2:p.Ile204Met
NR_038150.2:n.514A>G