Canonical Allele Identifier: CA392058069
Gene: UBR1 HGNC NCBI

Linked Data

gnomAD v4: 15-42958070-C-A
MyVariant Identifiers: chr15:g.43250268C>A (hg19) chr15:g.42958070C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958070C>A , CM000677.2:g.42958070C>A GRCh38
NC_000015.9:g.43250268C>A , CM000677.1:g.43250268C>A GRCh37
NC_000015.8:g.41037560C>A NCBI36
NG_012182.1:g.153019G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4778G>T MANE Select ENSP00000290650.4:p.Ser1593Ile
ENST00000290650.8:c.4778G>T ENSP00000290650.4:p.Ser1593Ile
NM_174916.2:c.4778G>T NP_777576.1:p.Ser1593Ile
NM_174916.3:c.4778G>T MANE Select NP_777576.1:p.Ser1593Ile
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