Canonical Allele Identifier: CA490120003
Gene: UBR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.43340632A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43048434A>T , CM000677.2:g.43048434A>T GRCh38
NC_000015.9:g.43340632A>T , CM000677.1:g.43340632A>T GRCh37
NC_000015.8:g.41127924A>T NCBI36
NG_012182.1:g.62655T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.1497T>A MANE Select ENSP00000290650.4:p.Leu499=
ENST00000290650.8:c.1497T>A ENSP00000290650.4:p.Leu499=
ENST00000546274.6:c.1497T>A ENSP00000477932.1:p.Leu499=
ENST00000563239.1:c.*203-1145T>A ENSP00000456502.1:n.*203-1145T>A
ENST00000569971.5:c.368T>A ENSP00000455759.1:n.368T>A
NM_174916.2:c.1497T>A NP_777576.1:p.Leu499=
NM_174916.3:c.1497T>A MANE Select NP_777576.1:p.Leu499=