Canonical Allele Identifier: CA490120004
Gene: UBR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.43340632A>G (hg19)
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Genomic Alleles

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

Transcript Alleles

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