Canonical Allele Identifier: CA392058131
Gene: UBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958080T>G , CM000677.2:g.42958080T>G GRCh38
NC_000015.9:g.43250278T>G , CM000677.1:g.43250278T>G GRCh37
NC_000015.8:g.41037570T>G NCBI36
NG_012182.1:g.153009A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4768A>C MANE Select ENSP00000290650.4:p.Lys1590Gln
ENST00000290650.8:c.4768A>C ENSP00000290650.4:p.Lys1590Gln
NM_174916.2:c.4768A>C NP_777576.1:p.Lys1590Gln
NM_174916.3:c.4768A>C MANE Select NP_777576.1:p.Lys1590Gln