Canonical Allele Identifier: CA392080635
Gene: UBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43068024T>A , CM000677.2:g.43068024T>A GRCh38
NC_000015.9:g.43360222T>A , CM000677.1:g.43360222T>A GRCh37
NC_000015.8:g.41147514T>A NCBI36
NG_012182.1:g.43065A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.672A>T MANE Select ENSP00000290650.4:p.Glu224Asp
ENST00000290650.8:c.672A>T ENSP00000290650.4:p.Glu224Asp
ENST00000546274.6:c.672A>T ENSP00000477932.1:p.Glu224Asp
ENST00000563239.1:c.*202+2875A>T ENSP00000456502.1:n.*202+2875A>T
NM_174916.2:c.672A>T NP_777576.1:p.Glu224Asp
NM_174916.3:c.672A>T MANE Select NP_777576.1:p.Glu224Asp