Canonical Allele Identifier: CA392080013
Gene: UBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43067926T>A , CM000677.2:g.43067926T>A GRCh38
NC_000015.9:g.43360124T>A , CM000677.1:g.43360124T>A GRCh37
NC_000015.8:g.41147416T>A NCBI36
NG_012182.1:g.43163A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.770A>T MANE Select ENSP00000290650.4:p.Gln257Leu
ENST00000290650.8:c.770A>T ENSP00000290650.4:p.Gln257Leu
ENST00000546274.6:c.770A>T ENSP00000477932.1:p.Gln257Leu
ENST00000563239.1:c.*202+2973A>T ENSP00000456502.1:n.*202+2973A>T
NM_174916.2:c.770A>T NP_777576.1:p.Gln257Leu
NM_174916.3:c.770A>T MANE Select NP_777576.1:p.Gln257Leu