{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7517857",
  "communityStandardTitle": [
    "NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1314018[alleleid]",
        "alleleId": 1314018,
        "preferredName": "NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1323737",
        "RCV": [
          "RCV001785111",
          "RCV003560847"
        ],
        "variationId": 1323737
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-43258418-A-T",
        "id": "15-43258418-A-T",
        "variant": "15:43258418 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43258418A>T?assembly=hg19",
        "id": "chr15:g.43258418A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42966220A>T?assembly=hg38",
        "id": "chr15:g.42966220A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374049779",
        "rs": 374049779
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-43258418-A-T?dataset=gnomad_r2_1",
        "id": "15-43258418-A-T",
        "variant": "15:43258418 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-42966220-A-T?dataset=gnomad_r3",
        "id": "15-42966220-A-T",
        "variant": "15:42966220 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-42966220-A-T?dataset=gnomad_r4",
        "id": "15-42966220-A-T",
        "variant": "15:42966220 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 42966220,
          "referenceAllele": "A",
          "start": 42966219
        }
      ],
      "hgvs": [
        "NC_000015.10:g.42966220A>T",
        "CM000677.2:g.42966220A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 43258418,
          "referenceAllele": "A",
          "start": 43258417
        }
      ],
      "hgvs": [
        "NC_000015.9:g.43258418A>T",
        "CM000677.1:g.43258418A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 41045710,
          "referenceAllele": "A",
          "start": 41045709
        }
      ],
      "hgvs": [
        "NC_000015.8:g.41045710A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 144869,
          "referenceAllele": "T",
          "start": 144868
        }
      ],
      "hgvs": [
        "NG_012182.1:g.144869T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4540,
          "referenceAllele": "T",
          "start": 4539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "ENST00000290650.9:c.4524T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290650.4:p.Tyr1508Ter",
        "hgvsWellDefined": "ENSP00000290650.4:p.Tyr1508_Leu1749delinsLeuArgCysAlaAlaLeuPhePheHisTyrLeuLeuGlyValThrProProGluGluLeuHisThrAsnSerAlaGluGlyGluTyrSerAlaLeuCysSerTyrLeuSerLeuProThrAsnLeuPheLeuLeuPheGlnGluTyrTrpAspThrValArgProLeuLeuGlnArgTrpCysAlaAspProAlaLeuLeuAsnCysLeuLysGlnLysAsnThrValValArgTyrProArgLysArgAsnSerLeuIleGluLeuProAspAspTyrSerCysLeuLeuAsnGlnAlaSerHisPheArgCysProArgSerAlaAspAspGluArgLysHisProValLeuCysLeuPheCysGlyAlaIleLeuCysSerGlnAsnIleCysCysGlnGluIleValAsnGlyGluGluValGlyAlaCysIlePheHisAlaLeuHisCysGlyAlaGlyValCysIlePheLeuLysIleArgGluCysArgValValLeuValGluGlyLysAlaArgGlyCysAlaTyrProAlaProTyrLeuAspGluTyrGlyGluThrAspProGlyLeuLysArgGlyAsnProLeuHisLeuSerArgGluArgTyrArgLysLeuHisLeuValTrpGlnGlnHisCysIleIleGluGluIleAlaArgSerGlnGluThrAsnGlnMetLeuPheGlyPheAsnTrpGlnLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290650.9:c.4524T>A"
          },
          "RefSeq": {
            "hgvs": "NM_174916.3:c.4524T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290650.4:p.Tyr1508Ter"
          },
          "RefSeq": {
            "hgvs": "NP_777576.1:p.Tyr1508Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4603,
          "referenceAllele": "T",
          "start": 4602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "ENST00000290650.8:c.4524T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290650.4:p.Tyr1508Ter",
        "hgvsWellDefined": "ENSP00000290650.4:p.Tyr1508_Leu1749delinsLeuArgCysAlaAlaLeuPhePheHisTyrLeuLeuGlyValThrProProGluGluLeuHisThrAsnSerAlaGluGlyGluTyrSerAlaLeuCysSerTyrLeuSerLeuProThrAsnLeuPheLeuLeuPheGlnGluTyrTrpAspThrValArgProLeuLeuGlnArgTrpCysAlaAspProAlaLeuLeuAsnCysLeuLysGlnLysAsnThrValValArgTyrProArgLysArgAsnSerLeuIleGluLeuProAspAspTyrSerCysLeuLeuAsnGlnAlaSerHisPheArgCysProArgSerAlaAspAspGluArgLysHisProValLeuCysLeuPheCysGlyAlaIleLeuCysSerGlnAsnIleCysCysGlnGluIleValAsnGlyGluGluValGlyAlaCysIlePheHisAlaLeuHisCysGlyAlaGlyValCysIlePheLeuLysIleArgGluCysArgValValLeuValGluGlyLysAlaArgGlyCysAlaTyrProAlaProTyrLeuAspGluTyrGlyGluThrAspProGlyLeuLysArgGlyAsnProLeuHisLeuSerArgGluArgTyrArgLysLeuHisLeuValTrpGlnGlnHisCysIleIleGluGluIleAlaArgSerGlnGluThrAsnGlnMetLeuPheGlyPheAsnTrpGlnLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573100252",
      "coordinates": [
        {
          "allele": "A",
          "end": 4590,
          "referenceAllele": "T",
          "start": 4589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "NM_174916.2:c.4524T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_777576.1:p.Tyr1508Ter",
        "hgvsWellDefined": "NP_777576.1:p.Tyr1508_Leu1749delinsLeuArgCysAlaAlaLeuPhePheHisTyrLeuLeuGlyValThrProProGluGluLeuHisThrAsnSerAlaGluGlyGluTyrSerAlaLeuCysSerTyrLeuSerLeuProThrAsnLeuPheLeuLeuPheGlnGluTyrTrpAspThrValArgProLeuLeuGlnArgTrpCysAlaAspProAlaLeuLeuAsnCysLeuLysGlnLysAsnThrValValArgTyrProArgLysArgAsnSerLeuIleGluLeuProAspAspTyrSerCysLeuLeuAsnGlnAlaSerHisPheArgCysProArgSerAlaAspAspGluArgLysHisProValLeuCysLeuPheCysGlyAlaIleLeuCysSerGlnAsnIleCysCysGlnGluIleValAsnGlyGluGluValGlyAlaCysIlePheHisAlaLeuHisCysGlyAlaGlyValCysIlePheLeuLysIleArgGluCysArgValValLeuValGluGlyLysAlaArgGlyCysAlaTyrProAlaProTyrLeuAspGluTyrGlyGluThrAspProGlyLeuLysArgGlyAsnProLeuHisLeuSerArgGluArgTyrArgLysLeuHisLeuValTrpGlnGlnHisCysIleIleGluGluIleAlaArgSerGlnGluThrAsnGlnMetLeuPheGlyPheAsnTrpGlnLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043092"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573100252",
      "coordinates": [
        {
          "allele": "A",
          "end": 4540,
          "referenceAllele": "T",
          "start": 4539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "NM_174916.3:c.4524T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_777576.1:p.Tyr1508Ter",
        "hgvsWellDefined": "NP_777576.1:p.Tyr1508_Leu1749delinsLeuArgCysAlaAlaLeuPhePheHisTyrLeuLeuGlyValThrProProGluGluLeuHisThrAsnSerAlaGluGlyGluTyrSerAlaLeuCysSerTyrLeuSerLeuProThrAsnLeuPheLeuLeuPheGlnGluTyrTrpAspThrValArgProLeuLeuGlnArgTrpCysAlaAspProAlaLeuLeuAsnCysLeuLysGlnLysAsnThrValValArgTyrProArgLysArgAsnSerLeuIleGluLeuProAspAspTyrSerCysLeuLeuAsnGlnAlaSerHisPheArgCysProArgSerAlaAspAspGluArgLysHisProValLeuCysLeuPheCysGlyAlaIleLeuCysSerGlnAsnIleCysCysGlnGluIleValAsnGlyGluGluValGlyAlaCysIlePheHisAlaLeuHisCysGlyAlaGlyValCysIlePheLeuLysIleArgGluCysArgValValLeuValGluGlyLysAlaArgGlyCysAlaTyrProAlaProTyrLeuAspGluTyrGlyGluThrAspProGlyLeuLysArgGlyAsnProLeuHisLeuSerArgGluArgTyrArgLysLeuHisLeuValTrpGlnGlnHisCysIleIleGluGluIleAlaArgSerGlnGluThrAsnGlnMetLeuPheGlyPheAsnTrpGlnLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672747",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290650.9:c.4524T>A"
          },
          "RefSeq": {
            "hgvs": "NM_174916.3:c.4524T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290650.4:p.Tyr1508Ter"
          },
          "RefSeq": {
            "hgvs": "NP_777576.1:p.Tyr1508Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}