Canonical Allele Identifier: CA392080651
Gene: UBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43068027A>C , CM000677.2:g.43068027A>C GRCh38
NC_000015.9:g.43360225A>C , CM000677.1:g.43360225A>C GRCh37
NC_000015.8:g.41147517A>C NCBI36
NG_012182.1:g.43062T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.669T>G MANE Select ENSP00000290650.4:p.Asn223Lys
ENST00000290650.8:c.669T>G ENSP00000290650.4:p.Asn223Lys
ENST00000546274.6:c.669T>G ENSP00000477932.1:p.Asn223Lys
ENST00000563239.1:c.*202+2872T>G ENSP00000456502.1:n.*202+2872T>G
NM_174916.2:c.669T>G NP_777576.1:p.Asn223Lys
NM_174916.3:c.669T>G MANE Select NP_777576.1:p.Asn223Lys