{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA357502304",
  "communityStandardTitle": [
    "NM_001386140.1(MTTP):c.334G>T (p.Gly112Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1783781[alleleid]",
        "alleleId": 1783781,
        "preferredName": "NM_001386140.1(MTTP):c.334G>T (p.Gly112Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1726254",
        "RCV": [
          "RCV002307225"
        ],
        "variationId": 1726254
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.100504615G>T?assembly=hg19",
        "id": "chr4:g.100504615G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.99583458G>T?assembly=hg38",
        "id": "chr4:g.99583458G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2476090213",
        "rs": 2476090213
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 99583458,
          "referenceAllele": "G",
          "start": 99583457
        }
      ],
      "hgvs": [
        "NC_000004.12:g.99583458G>T",
        "CM000666.2:g.99583458G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 100504615,
          "referenceAllele": "G",
          "start": 100504614
        }
      ],
      "hgvs": [
        "NC_000004.11:g.100504615G>T",
        "CM000666.1:g.100504615G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 100723638,
          "referenceAllele": "G",
          "start": 100723637
        }
      ],
      "hgvs": [
        "NC_000004.10:g.100723638G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24376,
          "referenceAllele": "G",
          "start": 24375
        }
      ],
      "hgvs": [
        "NG_011469.1:g.24376G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001737"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000265517.10:c.334G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265517.5:p.Gly112Ter",
        "hgvsWellDefined": "ENSP00000265517.5:p.Gly112_Phe894delinsLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.334G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.334G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:p.Gly112Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:p.Gly112Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000457717.6:c.334G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400821.1:p.Gly112Ter",
        "hgvsWellDefined": "ENSP00000400821.1:p.Gly112_Phe894delinsLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 428,
          "referenceAllele": "G",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511045.6:c.85G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427679.2:p.Gly29Ter",
        "hgvsWellDefined": "ENSP00000427679.2:p.Gly29_Phe811delinsLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "G",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000265517.9:c.334G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265517.5:p.Gly112Ter",
        "hgvsWellDefined": "ENSP00000265517.5:p.Gly112_Phe894delinsLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000422897.6:c.334G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407350.2:p.Gly112Ter",
        "hgvsWellDefined": "ENSP00000407350.2:p.Gly112_Gln151delinsLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGlyArgLeuAspSerThrThrPheSerProThrSerTyrPheSerSerLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000457717.5:c.334G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400821.1:p.Gly112Ter",
        "hgvsWellDefined": "ENSP00000400821.1:p.Gly112_Phe894delinsLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "G",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000506883.5:c.364G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426755.1:p.Gly122Ter",
        "hgvsWellDefined": "ENSP00000426755.1:p.Gly122Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 428,
          "referenceAllele": "G",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000511045.5:c.415G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427679.1:p.Gly139Ter",
        "hgvsWellDefined": "ENSP00000427679.1:p.Gly139_Phe921delinsLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000515141.5:c.*397G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425642.1:n.*397G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "ENST00000619629.1:c.334G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482850.1:p.Gly112Ter",
        "hgvsWellDefined": "ENSP00000482850.1:p.Gly112_Asn516delinsLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuPheHisAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825077111",
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_000253.3:c.334G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000244.2:p.Gly112Ter",
        "hgvsWellDefined": "NP_000244.2:p.Gly112_Phe894delinsLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.1:c.415G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.1:p.Gly139Ter",
        "hgvsWellDefined": "NP_001287714.1:p.Gly139_Phe921delinsLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825077111",
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_000253.4:c.334G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000244.2:p.Gly112Ter",
        "hgvsWellDefined": "NP_000244.2:p.Gly112_Phe894delinsLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580190114",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.2:c.85G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.2:p.Gly29Ter",
        "hgvsWellDefined": "NP_001287714.2:p.Gly29_Phe811delinsLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829070064",
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001386140.1:c.334G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373069.1:p.Gly112Ter",
        "hgvsWellDefined": "NP_001373069.1:p.Gly112_Phe894delinsLysGluAsnLeuGluAlaLeuGlnArgProThrLeuLeuHisLeuIleHisGlyLysValLysGluPheTyrSerTyrGlnAsnGluAlaValAlaIleGluAsnIleLysArgGlyLeuAlaSerLeuPheGlnThrGlnLeuSerSerGlyThrThrAsnGluValAspIleSerGlyAsnCysLysValThrTyrGlnAlaHisGlnAspLysValIleLysIleLysAlaLeuAspSerCysLysIleAlaArgSerGlyPheThrThrProAsnGlnValLeuGlyValSerSerLysAlaThrSerValThrThrTyrLysIleGluAspSerPheValIleAlaValLeuAlaGluGluThrHisAsnPheGlyLeuAsnPheLeuGlnThrIleLysGlyLysIleValSerLysGlnLysLeuGluLeuLysThrThrGluAlaGlyProArgLeuMetSerGlyLysGlnAlaAlaAlaIleIleLysAlaValAspSerLysTyrThrAlaIleProIleValGlyGlnValPheGlnSerHisCysLysGlyCysProSerLeuSerGluLeuTrpArgSerThrArgLysTyrLeuGlnProAspAsnLeuSerLysAlaGluAlaValArgAsnPheLeuAlaPheIleGlnHisLeuArgThrAlaLysLysGluGluIleLeuGlnIleLeuLysMetGluAsnLysGluValLeuProGlnLeuValAspAlaValThrSerAlaGlnThrSerAspSerLeuGluAlaIleLeuAspPheLeuAspPheLysSerAspSerSerIleIleLeuGlnGluArgPheLeuTyrAlaCysGlyPheAlaSerHisProAsnGluGluLeuLeuArgAlaLeuIleSerLysPheLysGlySerIleGlySerSerAspIleArgGluThrValMetIleIleThrGlyThrLeuValArgLysLeuCysGlnAsnGluGlyCysLysLeuLysAlaValValGluAlaLysLysLeuIleLeuGlyGlyLeuGluLysAlaGluLysLysGluAspThrArgMetTyrLeuLeuAlaLeuLysAsnAlaLeuLeuProGluGlyIleProSerLeuLeuLysTyrAlaGluAlaGlyGluGlyProIleSerHisLeuAlaThrThrAlaLeuGlnArgTyrAspLeuProPheIleThrAspGluValLysLysThrLeuAsnArgIleTyrHisGlnAsnArgLysValHisGluLysThrValArgThrAlaAlaAlaAlaIleIleLeuAsnAsnAsnProSerTyrMetAspValLysAsnIleLeuLeuSerIleGlyGluLeuProGlnGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724418",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.334G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.334G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:p.Gly112Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:p.Gly112Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}