Canonical Allele Identifier: CA490119982
Gene: UBR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.43340599G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43048401G>T , CM000677.2:g.43048401G>T GRCh38
NC_000015.9:g.43340599G>T , CM000677.1:g.43340599G>T GRCh37
NC_000015.8:g.41127891G>T NCBI36
NG_012182.1:g.62688C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.1530C>A MANE Select ENSP00000290650.4:p.Thr510=
ENST00000290650.8:c.1530C>A ENSP00000290650.4:p.Thr510=
ENST00000546274.6:c.1530C>A ENSP00000477932.1:p.Thr510=
ENST00000563239.1:c.*203-1112C>A ENSP00000456502.1:n.*203-1112C>A
ENST00000569971.5:c.401C>A ENSP00000455759.1:n.401C>A
NM_174916.2:c.1530C>A NP_777576.1:p.Thr510=
NM_174916.3:c.1530C>A MANE Select NP_777576.1:p.Thr510=