{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3021998",
  "communityStandardTitle": [
    "NM_001386140.1(MTTP):c.972G>A (p.Glu324=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=734784[alleleid]",
        "alleleId": 734784,
        "preferredName": "NM_001386140.1(MTTP):c.972G>A (p.Glu324=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/735130",
        "RCV": [
          "RCV000910632",
          "RCV001147853"
        ],
        "variationId": 735130
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-100518286-G-A",
        "id": "4-100518286-G-A",
        "variant": "4:100518286 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.100518286G>A?assembly=hg19",
        "id": "chr4:g.100518286G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.99597129G>A?assembly=hg38",
        "id": "chr4:g.99597129G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146953015",
        "rs": 146953015
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-100518286-G-A?dataset=gnomad_r2_1",
        "id": "4-100518286-G-A",
        "variant": "4:100518286 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-99597129-G-A?dataset=gnomad_r3",
        "id": "4-99597129-G-A",
        "variant": "4:99597129 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-99597129-G-A?dataset=gnomad_r4",
        "id": "4-99597129-G-A",
        "variant": "4:99597129 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 99597129,
          "referenceAllele": "G",
          "start": 99597128
        }
      ],
      "hgvs": [
        "NC_000004.12:g.99597129G>A",
        "CM000666.2:g.99597129G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 100518286,
          "referenceAllele": "G",
          "start": 100518285
        }
      ],
      "hgvs": [
        "NC_000004.11:g.100518286G>A",
        "CM000666.1:g.100518286G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 100737309,
          "referenceAllele": "G",
          "start": 100737308
        }
      ],
      "hgvs": [
        "NC_000004.10:g.100737309G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 38047,
          "referenceAllele": "G",
          "start": 38046
        }
      ],
      "hgvs": [
        "NG_011469.1:g.38047G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001737"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000265517.10:c.972G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265517.5:p.Glu324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.972G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.972G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:p.Glu324="
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:p.Glu324="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000457717.6:c.972G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400821.1:p.Glu324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511045.6:c.723G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427679.2:p.Glu241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000265517.9:c.972G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265517.5:p.Glu324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000457717.5:c.972G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400821.1:p.Glu324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511045.5:c.1053G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427679.1:p.Glu351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341397"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 996,
          "referenceAllele": "G",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000619629.1:c.972G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482850.1:p.Glu324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825077402",
      "coordinates": [
        {
          "allele": "A",
          "end": 1233,
          "referenceAllele": "G",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_000253.3:c.972G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000244.2:p.Glu324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.1:c.1053G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.1:p.Glu351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825077402",
      "coordinates": [
        {
          "allele": "A",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_000253.4:c.972G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000244.2:p.Glu324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826849179",
      "coordinates": [
        {
          "allele": "A",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.2:c.723G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.2:p.Glu241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829070155",
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001386140.1:c.972G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373069.1:p.Glu324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724418",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.972G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.972G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:p.Glu324="
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:p.Glu324="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}