Canonical Allele Identifier: CA392070025
Gene: UBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43048412T>G , CM000677.2:g.43048412T>G GRCh38
NC_000015.9:g.43340610T>G , CM000677.1:g.43340610T>G GRCh37
NC_000015.8:g.41127902T>G NCBI36
NG_012182.1:g.62677A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.1519A>C MANE Select ENSP00000290650.4:p.Lys507Gln
ENST00000290650.8:c.1519A>C ENSP00000290650.4:p.Lys507Gln
ENST00000546274.6:c.1519A>C ENSP00000477932.1:p.Lys507Gln
ENST00000563239.1:c.*203-1123A>C ENSP00000456502.1:n.*203-1123A>C
ENST00000569971.5:c.390A>C ENSP00000455759.1:n.390A>C
NM_174916.2:c.1519A>C NP_777576.1:p.Lys507Gln
NM_174916.3:c.1519A>C MANE Select NP_777576.1:p.Lys507Gln