Canonical Allele Identifier: CA392080646
Gene: UBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43068026C>A , CM000677.2:g.43068026C>A GRCh38
NC_000015.9:g.43360224C>A , CM000677.1:g.43360224C>A GRCh37
NC_000015.8:g.41147516C>A NCBI36
NG_012182.1:g.43063G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.670G>T MANE Select ENSP00000290650.4:p.Glu224Ter
ENST00000290650.8:c.670G>T ENSP00000290650.4:p.Glu224Ter
ENST00000546274.6:c.670G>T ENSP00000477932.1:p.Glu224Ter
ENST00000563239.1:c.*202+2873G>T ENSP00000456502.1:n.*202+2873G>T
NM_174916.2:c.670G>T NP_777576.1:p.Glu224Ter
NM_174916.3:c.670G>T MANE Select NP_777576.1:p.Glu224Ter