Canonical Allele Identifier: CA390810660

Gene: UBR7

Linked Data

• dbSNP Id: rs1409440020
• gnomAD v3: 14-93218530-C-T
• gnomAD v4: 14-93218530-C-T
• MyVariant Identifiers: chr14:g.93684876C>T (hg19) ; chr14:g.93218530C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218530C>T , CM000676.2:g.93218530C>T	GRCh38
NC_000014.8:g.93684876C>T , CM000676.1:g.93684876C>T	GRCh37
NC_000014.7:g.92754629C>T	NCBI36
NG_051089.1:g.16475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.605C>T MANE Select	ENSP00000013070.6:p.Thr202Ile
ENST00000013070.10:c.605C>T	ENSP00000013070.6:p.Thr202Ile
ENST00000416753.5:c.377C>T	ENSP00000391706.2:p.Thr126Ile
ENST00000553674.1:c.*306C>T	ENSP00000450470.1:n.*306C>T
ENST00000553857.5:c.378+3249C>T
ENST00000554232.5:c.509C>T	ENSP00000450645.1:p.Thr170Ile
ENST00000556871.5:c.314C>T	ENSP00000451022.1:p.Thr105Ile
ENST00000557048.1:n.514C>T
NM_175748.3:c.605C>T	NP_786924.2:p.Thr202Ile
NR_038150.1:n.707C>T
NM_175748.4:c.605C>T MANE Select	NP_786924.2:p.Thr202Ile
NR_038150.2:n.507C>T