Canonical Allele Identifier: CA390811415

Gene: UBR7

Linked Data

• dbSNP Id: rs1222651288
• gnomAD v4: 14-93218713-C-T
• MyVariant Identifiers: chr14:g.93685059C>T (hg19) ; chr14:g.93218713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218713C>T , CM000676.2:g.93218713C>T	GRCh38
NC_000014.8:g.93685059C>T , CM000676.1:g.93685059C>T	GRCh37
NC_000014.7:g.92754812C>T	NCBI36
NG_051089.1:g.16658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.788C>T MANE Select	ENSP00000013070.6:p.Ser263Phe
ENST00000013070.10:c.788C>T	ENSP00000013070.6:p.Ser263Phe
ENST00000416753.5:c.560C>T	ENSP00000391706.2:p.Ser187Phe
ENST00000553674.1:c.*489C>T	ENSP00000450470.1:n.*489C>T
ENST00000553857.5:c.378+3432C>T
ENST00000555329.1:c.33C>T
NM_175748.3:c.788C>T	NP_786924.2:p.Ser263Phe
NR_038150.1:n.890C>T
NM_175748.4:c.788C>T MANE Select	NP_786924.2:p.Ser263Phe
NR_038150.2:n.690C>T