{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA357507969",
  "communityStandardTitle": [
    "NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=971859[alleleid]",
        "alleleId": 971859,
        "preferredName": "NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983695",
        "RCV": [
          "RCV001263698"
        ],
        "variationId": 983695
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.100521753C>T?assembly=hg19",
        "id": "chr4:g.100521753C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.99600596C>T?assembly=hg38",
        "id": "chr4:g.99600596C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1171996547",
        "rs": 1171996547
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-100521753-C-T?dataset=gnomad_r2_1",
        "id": "4-100521753-C-T",
        "variant": "4:100521753 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-99600596-C-T?dataset=gnomad_r3",
        "id": "4-99600596-C-T",
        "variant": "4:99600596 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-99600596-C-T?dataset=gnomad_r4",
        "id": "4-99600596-C-T",
        "variant": "4:99600596 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 99600596,
          "referenceAllele": "C",
          "start": 99600595
        }
      ],
      "hgvs": [
        "NC_000004.12:g.99600596C>T",
        "CM000666.2:g.99600596C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 100521753,
          "referenceAllele": "C",
          "start": 100521752
        }
      ],
      "hgvs": [
        "NC_000004.11:g.100521753C>T",
        "CM000666.1:g.100521753C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 100740776,
          "referenceAllele": "C",
          "start": 100740775
        }
      ],
      "hgvs": [
        "NC_000004.10:g.100740776C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 41514,
          "referenceAllele": "C",
          "start": 41513
        }
      ],
      "hgvs": [
        "NG_011469.1:g.41514C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001737"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1185,
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          "start": 1184
        }
      ],
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      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000265517.10:c.1099C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000265517.5:p.Gln367_Phe894delinsThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.1099C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.1099C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:p.Gln367Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:p.Gln367Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1357,
          "referenceAllele": "C",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000457717.6:c.1099C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400821.1:p.Gln367Ter",
        "hgvsWellDefined": "ENSP00000400821.1:p.Gln367_Phe894delinsThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511045.6:c.850C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000427679.2:p.Gln284Ter",
        "hgvsWellDefined": "ENSP00000427679.2:p.Gln284_Phe811delinsThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1302,
          "referenceAllele": "C",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000265517.9:c.1099C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000265517.5:p.Gln367_Phe894delinsThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1355,
          "referenceAllele": "C",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000457717.5:c.1099C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400821.1:p.Gln367Ter",
        "hgvsWellDefined": "ENSP00000400821.1:p.Gln367_Phe894delinsThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511045.5:c.1180C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427679.1:p.Gln394Ter",
        "hgvsWellDefined": "ENSP00000427679.1:p.Gln394_Phe921delinsThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1123,
          "referenceAllele": "C",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000619629.1:c.1099C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482850.1:p.Gln367Ter",
        "hgvsWellDefined": "ENSP00000482850.1:p.Gln367_Asn516delinsThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuPheHisAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825077454",
      "coordinates": [
        {
          "allele": "T",
          "end": 1360,
          "referenceAllele": "C",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_000253.3:c.1099C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000244.2:p.Gln367Ter",
        "hgvsWellDefined": "NP_000244.2:p.Gln367_Phe894delinsThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1198,
          "referenceAllele": "C",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.1:c.1180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.1:p.Gln394Ter",
        "hgvsWellDefined": "NP_001287714.1:p.Gln394_Phe921delinsThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825077454",
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_000253.4:c.1099C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000244.2:p.Gln367Ter",
        "hgvsWellDefined": "NP_000244.2:p.Gln367_Phe894delinsThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826849202",
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "C",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.2:c.850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.2:p.Gln284Ter",
        "hgvsWellDefined": "NP_001287714.2:p.Gln284_Phe811delinsThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139745487",
      "coordinates": [
        {
          "allele": "T",
          "end": 1185,
          "referenceAllele": "C",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001386140.1:c.1099C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373069.1:p.Gln367Ter",
        "hgvsWellDefined": "NP_001373069.1:p.Gln367_Phe894delinsThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724418",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.1099C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.1099C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:p.Gln367Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:p.Gln367Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}