Canonical Allele Identifier: CA7319924
Gene: UBR7 HGNC NCBI

Linked Data

dbSNP Id: rs780177022
ExAC: 14:93685054 C / T
gnomAD v2: 14-93685054-C-T
gnomAD v3: 14-93218708-C-T
gnomAD v4: 14-93218708-C-T
COSMIC: COSM699050
MyVariant Identifiers: chr14:g.93685054C>T (hg19) chr14:g.93218708C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218708C>T , CM000676.2:g.93218708C>T GRCh38
NC_000014.8:g.93685054C>T , CM000676.1:g.93685054C>T GRCh37
NC_000014.7:g.92754807C>T NCBI36
NG_051089.1:g.16653C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.783C>T MANE Select ENSP00000013070.6:p.Ala261=
ENST00000013070.10:c.783C>T ENSP00000013070.6:p.Ala261=
ENST00000416753.5:c.555C>T ENSP00000391706.2:p.Ala185=
ENST00000553674.1:c.*484C>T ENSP00000450470.1:n.*484C>T
ENST00000553857.5:c.378+3427C>T
ENST00000555329.1:c.28C>T
NM_175748.3:c.783C>T NP_786924.2:p.Ala261=
NR_038150.1:n.885C>T
NM_175748.4:c.783C>T MANE Select NP_786924.2:p.Ala261=
NR_038150.2:n.685C>T
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