{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA553130933",
  "communityStandardTitle": [
    "NM_001386140.1(MTTP):c.2218-235T>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.100539896T>G?assembly=hg19",
        "id": "chr4:g.100539896T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.99618739T>G?assembly=hg38",
        "id": "chr4:g.99618739T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1032355",
        "rs": 1032355
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-100539896-T-G?dataset=gnomad_r2_1",
        "id": "4-100539896-T-G",
        "variant": "4:100539896 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-99618739-T-G?dataset=gnomad_r3",
        "id": "4-99618739-T-G",
        "variant": "4:99618739 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-99618739-T-G?dataset=gnomad_r4",
        "id": "4-99618739-T-G",
        "variant": "4:99618739 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 99618739,
          "referenceAllele": "T",
          "start": 99618738
        }
      ],
      "hgvs": [
        "NC_000004.12:g.99618739T>G",
        "CM000666.2:g.99618739T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 100539896,
          "referenceAllele": "T",
          "start": 100539895
        }
      ],
      "hgvs": [
        "NC_000004.11:g.100539896T>G",
        "CM000666.1:g.100539896T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 100758919,
          "referenceAllele": "T",
          "start": 100758918
        }
      ],
      "hgvs": [
        "NC_000004.10:g.100758919T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59657,
          "referenceAllele": "T",
          "start": 59656
        }
      ],
      "hgvs": [
        "NG_011469.1:g.59657T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001737"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2303,
          "endIntronDirection": "-",
          "endIntronOffset": 234,
          "referenceAllele": "T",
          "start": 2303,
          "startIntronDirection": "-",
          "startIntronOffset": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000265517.10:c.2218-235T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265517.5:n.2218-235T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.2218-235T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.2218-235T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:n.2218-235T>G"
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:n.2218-235T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2475,
          "endIntronDirection": "-",
          "endIntronOffset": 234,
          "referenceAllele": "T",
          "start": 2475,
          "startIntronDirection": "-",
          "startIntronOffset": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000457717.6:c.2218-235T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400821.1:n.2218-235T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2311,
          "endIntronDirection": "-",
          "endIntronOffset": 234,
          "referenceAllele": "T",
          "start": 2311,
          "startIntronDirection": "-",
          "startIntronOffset": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511045.6:c.1969-235T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427679.2:n.1969-235T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2420,
          "endIntronDirection": "-",
          "endIntronOffset": 234,
          "referenceAllele": "T",
          "start": 2420,
          "startIntronDirection": "-",
          "startIntronOffset": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000265517.9:c.2218-235T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265517.5:n.2218-235T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251762"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2473,
          "endIntronDirection": "-",
          "endIntronOffset": 234,
          "referenceAllele": "T",
          "start": 2473,
          "startIntronDirection": "-",
          "startIntronOffset": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000457717.5:c.2218-235T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400821.1:n.2218-235T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2311,
          "endIntronDirection": "-",
          "endIntronOffset": 234,
          "referenceAllele": "T",
          "start": 2311,
          "startIntronDirection": "-",
          "startIntronOffset": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511045.5:c.2299-235T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427679.1:n.2299-235T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2239,
          "endIntronDirection": "-",
          "endIntronOffset": 234,
          "referenceAllele": "T",
          "start": 2239,
          "startIntronDirection": "-",
          "startIntronOffset": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000619629.1:c.*665-235T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482850.1:n.*665-235T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404460"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2478,
          "endIntronDirection": "-",
          "endIntronOffset": 234,
          "referenceAllele": "T",
          "start": 2478,
          "startIntronDirection": "-",
          "startIntronOffset": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_000253.3:c.2218-235T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000244.2:n.2218-235T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2316,
          "endIntronDirection": "-",
          "endIntronOffset": 234,
          "referenceAllele": "T",
          "start": 2316,
          "startIntronDirection": "-",
          "startIntronOffset": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.1:c.2299-235T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.1:n.2299-235T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2426,
          "endIntronDirection": "-",
          "endIntronOffset": 234,
          "referenceAllele": "T",
          "start": 2426,
          "startIntronDirection": "-",
          "startIntronOffset": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_000253.4:c.2218-235T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000244.2:n.2218-235T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2264,
          "endIntronDirection": "-",
          "endIntronOffset": 234,
          "referenceAllele": "T",
          "start": 2264,
          "startIntronDirection": "-",
          "startIntronOffset": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.2:c.1969-235T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.2:n.1969-235T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2303,
          "endIntronDirection": "-",
          "endIntronOffset": 234,
          "referenceAllele": "T",
          "start": 2303,
          "startIntronDirection": "-",
          "startIntronOffset": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001386140.1:c.2218-235T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373069.1:n.2218-235T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724418",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.2218-235T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.2218-235T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:n.2218-235T>G"
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:n.2218-235T>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}