Canonical Allele Identifier: CA7517761
Gene: UBR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 437196
ClinVar RCV Id: RCV000502460 RCV000953335 RCV003915398
dbSNP Id: rs78948790
ExAC: 15:43250212 T / C
gnomAD v2: 15-43250212-T-C
gnomAD v3: 15-42958014-T-C
gnomAD v4: 15-42958014-T-C
MyVariant Identifiers: chr15:g.43250212T>C (hg19) chr15:g.42958014T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958014T>C , CM000677.2:g.42958014T>C GRCh38
NC_000015.9:g.43250212T>C , CM000677.1:g.43250212T>C GRCh37
NC_000015.8:g.41037504T>C NCBI36
NG_012182.1:g.153075A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.4834A>G MANE Select ENSP00000290650.4:p.Arg1612Gly
ENST00000290650.8:c.4834A>G ENSP00000290650.4:p.Arg1612Gly
NM_174916.2:c.4834A>G NP_777576.1:p.Arg1612Gly
NM_174916.3:c.4834A>G MANE Select NP_777576.1:p.Arg1612Gly
Search 100 bp 5'
Search 100 bp 3'