{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA357500681",
  "communityStandardTitle": [
    "NM_001386140.1(MTTP):c.114C>G (p.Tyr38Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.100503114C>G?assembly=hg19",
        "id": "chr4:g.100503114C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.99581957C>G?assembly=hg38",
        "id": "chr4:g.99581957C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 99581957,
          "referenceAllele": "C",
          "start": 99581956
        }
      ],
      "hgvs": [
        "NC_000004.12:g.99581957C>G",
        "CM000666.2:g.99581957C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 100503114,
          "referenceAllele": "C",
          "start": 100503113
        }
      ],
      "hgvs": [
        "NC_000004.11:g.100503114C>G",
        "CM000666.1:g.100503114C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 100722137,
          "referenceAllele": "C",
          "start": 100722136
        }
      ],
      "hgvs": [
        "NC_000004.10:g.100722137C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22875,
          "referenceAllele": "C",
          "start": 22874
        }
      ],
      "hgvs": [
        "NG_011469.1:g.22875C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001737"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 200,
          "referenceAllele": "C",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000265517.10:c.114C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265517.5:p.Tyr38Ter",
        "hgvsWellDefined": "ENSP00000265517.5:p.Tyr38_Phe894delinsSerThrGluValLeuLeuAspArgGlyLysGlyLysLeuGlnAspSerValGlyTyrArgIleSerSerAsnValAspValAlaLeuLeuTrpArgAsnProAspGlyAspAspAspGlnLeuIleGlnIleThrMetLysAspValAsnValGluAsnValAsnGlnGlnArgGlyGluLysSerIlePheLysGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.114C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.114C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:p.Tyr38Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:p.Tyr38Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "referenceAllele": "C",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000457717.6:c.114C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400821.1:p.Tyr38Ter",
        "hgvsWellDefined": "ENSP00000400821.1:p.Tyr38_Phe894delinsSerThrGluValLeuLeuAspArgGlyLysGlyLysLeuGlnAspSerValGlyTyrArgIleSerSerAsnValAspValAlaLeuLeuTrpArgAsnProAspGlyAspAspAspGlnLeuIleGlnIleThrMetLysAspValAsnValGluAsnValAsnGlnGlnArgGlyGluLysSerIlePheLysGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000505094.6:c.-136C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422782.2:n.-136C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 208,
          "referenceAllele": "C",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511045.6:c.-136C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427679.2:n.-136C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511610.6:c.114C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422178.2:p.Tyr38Ter",
        "hgvsWellDefined": "ENSP00000422178.2:p.Tyr38_Leu43del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758247"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 317,
          "referenceAllele": "C",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000265517.9:c.114C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265517.5:p.Tyr38Ter",
        "hgvsWellDefined": "ENSP00000265517.5:p.Tyr38_Phe894delinsSerThrGluValLeuLeuAspArgGlyLysGlyLysLeuGlnAspSerValGlyTyrArgIleSerSerAsnValAspValAlaLeuLeuTrpArgAsnProAspGlyAspAspAspGlnLeuIleGlnIleThrMetLysAspValAsnValGluAsnValAsnGlnGlnArgGlyGluLysSerIlePheLysGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251762"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 200,
          "referenceAllele": "C",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000422897.6:c.114C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407350.2:p.Tyr38Ter",
        "hgvsWellDefined": "ENSP00000407350.2:p.Tyr38_Gln151delinsSerThrGluValLeuLeuAspArgGlyLysGlyLysLeuGlnAspSerValGlyTyrArgIleSerSerAsnValAspValAlaLeuLeuTrpArgAsnProAspGlyAspAspAspGlnLeuIleGlnIleThrMetLysAspValAsnValGluAsnValAsnGlnGlnArgGlyGluLysSerIlePheLysGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGlyArgLeuAspSerThrThrPheSerProThrSerTyrPheSerSerLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000457717.5:c.114C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400821.1:p.Tyr38Ter",
        "hgvsWellDefined": "ENSP00000400821.1:p.Tyr38_Phe894delinsSerThrGluValLeuLeuAspArgGlyLysGlyLysLeuGlnAspSerValGlyTyrArgIleSerSerAsnValAspValAlaLeuLeuTrpArgAsnProAspGlyAspAspAspGlnLeuIleGlnIleThrMetLysAspValAsnValGluAsnValAsnGlnGlnArgGlyGluLysSerIlePheLysGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000505094.5:c.*204C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422782.1:n.*204C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000505142.5:c.*304C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425987.1:n.*304C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 157,
          "referenceAllele": "C",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000506883.5:c.144C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426755.1:p.Tyr48Ter",
        "hgvsWellDefined": "ENSP00000426755.1:p.Tyr48Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 208,
          "referenceAllele": "C",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511045.5:c.195C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427679.1:p.Tyr65Ter",
        "hgvsWellDefined": "ENSP00000427679.1:p.Tyr65_Phe921delinsSerThrGluValLeuLeuAspArgGlyLysGlyLysLeuGlnAspSerValGlyTyrArgIleSerSerAsnValAspValAlaLeuLeuTrpArgAsnProAspGlyAspAspAspGlnLeuIleGlnIleThrMetLysAspValAsnValGluAsnValAsnGlnGlnArgGlyGluLysSerIlePheLysGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511610.5:c.*304C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422178.1:n.*304C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000513404.5:c.*177C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424972.1:n.*177C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "referenceAllele": "C",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000515141.5:c.*177C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425642.1:n.*177C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 138,
          "referenceAllele": "C",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000619629.1:c.114C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482850.1:p.Tyr38Ter",
        "hgvsWellDefined": "ENSP00000482850.1:p.Tyr38_Asn516delinsSerThrGluValLeuLeuAspArgGlyLysGlyLysLeuGlnAspSerValGlyTyrArgIleSerSerAsnValAspValAlaLeuLeuTrpArgAsnProAspGlyAspAspAspGlnLeuIleGlnIleThrMetLysAspValAsnValGluAsnValAsnGlnGlnArgGlyGluLysSerIlePheLysGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuPheHisAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825077004",
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "referenceAllele": "C",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_000253.3:c.114C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000244.2:p.Tyr38Ter",
        "hgvsWellDefined": "NP_000244.2:p.Tyr38_Phe894delinsSerThrGluValLeuLeuAspArgGlyLysGlyLysLeuGlnAspSerValGlyTyrArgIleSerSerAsnValAspValAlaLeuLeuTrpArgAsnProAspGlyAspAspAspGlnLeuIleGlnIleThrMetLysAspValAsnValGluAsnValAsnGlnGlnArgGlyGluLysSerIlePheLysGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.1:c.195C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.1:p.Tyr65Ter",
        "hgvsWellDefined": "NP_001287714.1:p.Tyr65_Phe921delinsSerThrGluValLeuLeuAspArgGlyLysGlyLysLeuGlnAspSerValGlyTyrArgIleSerSerAsnValAspValAlaLeuLeuTrpArgAsnProAspGlyAspAspAspGlnLeuIleGlnIleThrMetLysAspValAsnValGluAsnValAsnGlnGlnArgGlyGluLysSerIlePheLysGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825077004",
      "coordinates": [
        {
          "allele": "G",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_000253.4:c.114C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000244.2:p.Tyr38Ter",
        "hgvsWellDefined": "NP_000244.2:p.Tyr38_Phe894delinsSerThrGluValLeuLeuAspArgGlyLysGlyLysLeuGlnAspSerValGlyTyrArgIleSerSerAsnValAspValAlaLeuLeuTrpArgAsnProAspGlyAspAspAspGlnLeuIleGlnIleThrMetLysAspValAsnValGluAsnValAsnGlnGlnArgGlyGluLysSerIlePheLysGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 161,
          "referenceAllele": "C",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.2:c.-136C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.2:n.-136C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580245477",
      "coordinates": [
        {
          "allele": "G",
          "end": 200,
          "referenceAllele": "C",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001386140.1:c.114C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373069.1:p.Tyr38Ter",
        "hgvsWellDefined": "NP_001373069.1:p.Tyr38_Phe894delinsSerThrGluValLeuLeuAspArgGlyLysGlyLysLeuGlnAspSerValGlyTyrArgIleSerSerAsnValAspValAlaLeuLeuTrpArgAsnProAspGlyAspAspAspGlnLeuIleGlnIleThrMetLysAspValAsnValGluAsnValAsnGlnGlnArgGlyGluLysSerIlePheLysGlyLysSerProSerLysIleMetGlyLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724418",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.114C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.114C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:p.Tyr38Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:p.Tyr38Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}