Canonical Allele Identifier: CA392080679
Gene: UBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43068032T>G , CM000677.2:g.43068032T>G GRCh38
NC_000015.9:g.43360230T>G , CM000677.1:g.43360230T>G GRCh37
NC_000015.8:g.41147522T>G NCBI36
NG_012182.1:g.43057A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.664A>C MANE Select ENSP00000290650.4:p.Lys222Gln
ENST00000290650.8:c.664A>C ENSP00000290650.4:p.Lys222Gln
ENST00000546274.6:c.664A>C ENSP00000477932.1:p.Lys222Gln
ENST00000563239.1:c.*202+2867A>C ENSP00000456502.1:n.*202+2867A>C
NM_174916.2:c.664A>C NP_777576.1:p.Lys222Gln
NM_174916.3:c.664A>C MANE Select NP_777576.1:p.Lys222Gln