Canonical Allele Identifier: CA117012
Gene: UBR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4678
ClinVar RCV Id: RCV000004942
dbSNP Id: rs119477054
gnomAD v4: 15-43082648-T-C
MyVariant Identifiers: chr15:g.43374846T>C (hg19) chr15:g.43082648T>C (hg38)
PubMed: PMID:16311597
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43082648T>C , CM000677.2:g.43082648T>C GRCh38
NC_000015.9:g.43374846T>C , CM000677.1:g.43374846T>C GRCh37
NC_000015.8:g.41162138T>C NCBI36
NG_012182.1:g.28441A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.407A>G MANE Select ENSP00000290650.4:p.His136Arg
ENST00000290650.8:c.407A>G ENSP00000290650.4:p.His136Arg
ENST00000546274.6:c.407A>G ENSP00000477932.1:p.His136Arg
ENST00000563239.1:c.*54A>G ENSP00000456502.1:n.*54A>G
NM_174916.2:c.407A>G NP_777576.1:p.His136Arg
NM_174916.3:c.407A>G MANE Select NP_777576.1:p.His136Arg
Search 100 bp 5'
Search 100 bp 3'