{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA157787",
  "communityStandardTitle": [
    "NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137518[alleleid]",
        "alleleId": 137518,
        "preferredName": "NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133779",
        "RCV": [
          "RCV000120430",
          "RCV000763966",
          "RCV001762250",
          "RCV000472793",
          "RCV001543132"
        ],
        "variationId": 133779
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-40477786-C-T",
        "id": "15-40477786-C-T",
        "variant": "15:40477786 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.40477786C>T?assembly=hg19",
        "id": "chr15:g.40477786C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.40185585C>T?assembly=hg38",
        "id": "chr15:g.40185585C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141953425",
        "rs": 141953425
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-40477786-C-T?dataset=gnomad_r2_1",
        "id": "15-40477786-C-T",
        "variant": "15:40477786 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-40185585-C-T?dataset=gnomad_r3",
        "id": "15-40185585-C-T",
        "variant": "15:40185585 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-40185585-C-T?dataset=gnomad_r4",
        "id": "15-40185585-C-T",
        "variant": "15:40185585 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 40185585,
          "referenceAllele": "C",
          "start": 40185584
        }
      ],
      "hgvs": [
        "NC_000015.10:g.40185585C>T",
        "CM000677.2:g.40185585C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 40477786,
          "referenceAllele": "C",
          "start": 40477785
        }
      ],
      "hgvs": [
        "NC_000015.9:g.40477786C>T",
        "CM000677.1:g.40477786C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 38265078,
          "referenceAllele": "C",
          "start": 38265077
        }
      ],
      "hgvs": [
        "NC_000015.8:g.38265078C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29577,
          "referenceAllele": "C",
          "start": 29576
        }
      ],
      "hgvs": [
        "NG_016338.1:g.29577C>T",
        "LRG_489:g.29577C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003105"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001149",
      "geneNCBI_id": 701,
      "geneSymbol": "BUB1B",
      "hgvs": [
        "ENST00000287598.11:c.1001C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287598.7:p.Pro334Leu",
        "hgvsWellDefined": "ENSP00000287598.7:p.Pro334Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287598.11:c.1001C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001211.6:c.1001C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287598.7:p.Pro334Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001202.5:p.Pro334Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001149",
      "geneNCBI_id": 701,
      "geneSymbol": "BUB1B",
      "hgvs": [
        "ENST00000287598.10:c.1001C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287598.6:p.Pro334Leu",
        "hgvsWellDefined": "ENSP00000287598.6:p.Pro334Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1197,
          "referenceAllele": "C",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001149",
      "geneNCBI_id": 701,
      "geneSymbol": "BUB1B",
      "hgvs": [
        "ENST00000412359.7:c.1043C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398470.3:p.Pro348Leu",
        "hgvsWellDefined": "ENSP00000398470.3:p.Pro348Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "referenceAllele": "C",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001149",
      "geneNCBI_id": 701,
      "geneSymbol": "BUB1B",
      "hgvs": [
        "ENST00000557848.1:n.260C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 170,
          "endIntronDirection": "+",
          "endIntronOffset": 1702,
          "referenceAllele": "C",
          "start": 170,
          "startIntronDirection": "+",
          "startIntronOffset": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001149",
      "geneNCBI_id": 701,
      "geneSymbol": "BUB1B",
      "hgvs": [
        "ENST00000559733.5:c.170+1702C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "C",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001149",
      "geneNCBI_id": 701,
      "geneSymbol": "BUB1B",
      "hgvs": [
        "ENST00000559772.1:n.114C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA157789",
      "coordinates": [
        {
          "allele": "T",
          "end": 1213,
          "referenceAllele": "C",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001149",
      "geneNCBI_id": 701,
      "geneSymbol": "BUB1B",
      "hgvs": [
        "NM_001211.5:c.1001C>T",
        "LRG_489t1:c.1001C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001202.4:p.Pro334Leu",
        "hgvsWellDefined": "NP_001202.4:p.Pro334Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 5383,
          "referenceAllele": "G",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 5384
        }
      ],
      "hgvs": [
        "XR_001751506.1:n.218-5384G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573067620",
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001149",
      "geneNCBI_id": 701,
      "geneSymbol": "BUB1B",
      "hgvs": [
        "NM_001211.6:c.1001C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001202.5:p.Pro334Leu",
        "hgvsWellDefined": "NP_001202.5:p.Pro334Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680023",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287598.11:c.1001C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001211.6:c.1001C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287598.7:p.Pro334Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001202.5:p.Pro334Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}