Canonical Allele Identifier: CA392070953
Gene: UBR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429676
ClinVar RCV Id: RCV000494094 RCV002063857
dbSNP Id: rs1131691524
MyVariant Identifiers: chr15:g.43322248C>T (hg19) chr15:g.43030050C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43030050C>T , CM000677.2:g.43030050C>T GRCh38
NC_000015.9:g.43322248C>T , CM000677.1:g.43322248C>T GRCh37
NC_000015.8:g.41109540C>T NCBI36
NG_012182.1:g.81039G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.2273G>A MANE Select ENSP00000290650.4:p.Gly758Glu
ENST00000290650.8:c.2273G>A ENSP00000290650.4:p.Gly758Glu
ENST00000546274.6:c.2273G>A ENSP00000477932.1:p.Gly758Glu
ENST00000569066.2:c.308G>A ENSP00000456327.1:p.Gly103Glu
NM_174916.2:c.2273G>A NP_777576.1:p.Gly758Glu
NM_174916.3:c.2273G>A MANE Select NP_777576.1:p.Gly758Glu
Search 100 bp 5'
Search 100 bp 3'