Canonical Allele Identifier: CA392080604
Gene: UBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43068019T>A , CM000677.2:g.43068019T>A GRCh38
NC_000015.9:g.43360217T>A , CM000677.1:g.43360217T>A GRCh37
NC_000015.8:g.41147509T>A NCBI36
NG_012182.1:g.43070A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.677A>T MANE Select ENSP00000290650.4:p.Tyr226Phe
ENST00000290650.8:c.677A>T ENSP00000290650.4:p.Tyr226Phe
ENST00000546274.6:c.677A>T ENSP00000477932.1:p.Tyr226Phe
ENST00000563239.1:c.*202+2880A>T ENSP00000456502.1:n.*202+2880A>T
NM_174916.2:c.677A>T NP_777576.1:p.Tyr226Phe
NM_174916.3:c.677A>T MANE Select NP_777576.1:p.Tyr226Phe