Canonical Allele Identifier: CA392080018
Gene: UBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43067927G>C , CM000677.2:g.43067927G>C GRCh38
NC_000015.9:g.43360125G>C , CM000677.1:g.43360125G>C GRCh37
NC_000015.8:g.41147417G>C NCBI36
NG_012182.1:g.43162C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.769C>G MANE Select ENSP00000290650.4:p.Gln257Glu
ENST00000290650.8:c.769C>G ENSP00000290650.4:p.Gln257Glu
ENST00000546274.6:c.769C>G ENSP00000477932.1:p.Gln257Glu
ENST00000563239.1:c.*202+2972C>G ENSP00000456502.1:n.*202+2972C>G
NM_174916.2:c.769C>G NP_777576.1:p.Gln257Glu
NM_174916.3:c.769C>G MANE Select NP_777576.1:p.Gln257Glu