Canonical Allele Identifier: CA392080059
Gene: UBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43067933C>G , CM000677.2:g.43067933C>G GRCh38
NC_000015.9:g.43360131C>G , CM000677.1:g.43360131C>G GRCh37
NC_000015.8:g.41147423C>G NCBI36
NG_012182.1:g.43156G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.763G>C MANE Select ENSP00000290650.4:p.Glu255Gln
ENST00000290650.8:c.763G>C ENSP00000290650.4:p.Glu255Gln
ENST00000546274.6:c.763G>C ENSP00000477932.1:p.Glu255Gln
ENST00000563239.1:c.*202+2966G>C ENSP00000456502.1:n.*202+2966G>C
NM_174916.2:c.763G>C NP_777576.1:p.Glu255Gln
NM_174916.3:c.763G>C MANE Select NP_777576.1:p.Glu255Gln