Canonical Allele Identifier: CA390810739

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93684914A>T (hg19) ; chr14:g.93218568A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218568A>T , CM000676.2:g.93218568A>T	GRCh38
NC_000014.8:g.93684914A>T , CM000676.1:g.93684914A>T	GRCh37
NC_000014.7:g.92754667A>T	NCBI36
NG_051089.1:g.16513A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.643A>T MANE Select	ENSP00000013070.6:p.Ile215Phe
ENST00000013070.10:c.643A>T	ENSP00000013070.6:p.Ile215Phe
ENST00000416753.5:c.415A>T	ENSP00000391706.2:p.Ile139Phe
ENST00000553674.1:c.*344A>T	ENSP00000450470.1:n.*344A>T
ENST00000553857.5:c.378+3287A>T
ENST00000556871.5:c.352A>T	ENSP00000451022.1:p.Ile118Phe
ENST00000557048.1:n.552A>T
NM_175748.3:c.643A>T	NP_786924.2:p.Ile215Phe
NR_038150.1:n.745A>T
NM_175748.4:c.643A>T MANE Select	NP_786924.2:p.Ile215Phe
NR_038150.2:n.545A>T