Canonical Allele Identifier: CA390811283

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93685041G>T (hg19) ; chr14:g.93218695G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218695G>T , CM000676.2:g.93218695G>T	GRCh38
NC_000014.8:g.93685041G>T , CM000676.1:g.93685041G>T	GRCh37
NC_000014.7:g.92754794G>T	NCBI36
NG_051089.1:g.16640G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.770G>T MANE Select	ENSP00000013070.6:p.Ser257Ile
ENST00000013070.10:c.770G>T	ENSP00000013070.6:p.Ser257Ile
ENST00000416753.5:c.542G>T	ENSP00000391706.2:p.Ser181Ile
ENST00000553674.1:c.*471G>T	ENSP00000450470.1:n.*471G>T
ENST00000553857.5:c.378+3414G>T
ENST00000555329.1:c.15G>T
NM_175748.3:c.770G>T	NP_786924.2:p.Ser257Ile
NR_038150.1:n.872G>T
NM_175748.4:c.770G>T MANE Select	NP_786924.2:p.Ser257Ile
NR_038150.2:n.672G>T