{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA129068991",
  "communityStandardTitle": [
    "NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=511578[alleleid]",
        "alleleId": 511578,
        "preferredName": "NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/520697",
        "RCV": [
          "RCV000624615",
          "RCV000785985",
          "RCV001849409",
          "RCV001860422"
        ],
        "variationId": 520697
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149449505G>A?assembly=hg19",
        "id": "chr5:g.149449505G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.150069942G>A?assembly=hg38",
        "id": "chr5:g.150069942G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/917027829",
        "rs": 917027829
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 150069942,
          "referenceAllele": "G",
          "start": 150069941
        }
      ],
      "hgvs": [
        "NC_000005.10:g.150069942G>A",
        "CM000667.2:g.150069942G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149449505,
          "referenceAllele": "G",
          "start": 149449504
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149449505G>A",
        "CM000667.1:g.149449505G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149429698,
          "referenceAllele": "G",
          "start": 149429697
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149429698G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 48431,
          "referenceAllele": "C",
          "start": 48430
        }
      ],
      "hgvs": [
        "NG_012303.1:g.48431C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 48431,
          "referenceAllele": "C",
          "start": 48430
        }
      ],
      "hgvs": [
        "NG_012303.2:g.48431C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673594"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1568,
          "referenceAllele": "C",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000675795.1:c.1441C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501699.1:p.Gln481Ter",
        "hgvsWellDefined": "ENSP00000501699.1:p.Gln481_Cys972delinsThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775566",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675795.1:c.1441C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001288705.3:c.1441C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501699.1:p.Gln481Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001275634.1:p.Gln481Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000286301.7:c.1441C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286301.3:p.Gln481Ter",
        "hgvsWellDefined": "ENSP00000286301.3:p.Gln481_Cys972delinsThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1604,
          "referenceAllele": "C",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "ENST00000504875.5:c.1441C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422212.1:p.Gln481Ter",
        "hgvsWellDefined": "ENSP00000422212.1:p.Gln481_Arg671delinsThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyThrValAlaSerProAlaArgValTrpThrProMetTrpArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336812"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712746",
      "coordinates": [
        {
          "allele": "T",
          "end": 1654,
          "referenceAllele": "C",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.1:c.1441C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.Gln481Ter",
        "hgvsWellDefined": "NP_001275634.1:p.Gln481_Cys972delinsThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806815",
      "coordinates": [
        {
          "allele": "T",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_005211.3:c.1441C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005202.2:p.Gln481Ter",
        "hgvsWellDefined": "NP_005202.2:p.Gln481_Cys972delinsThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1654,
          "referenceAllele": "C",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_109969.1:n.1654C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054258"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712746",
      "coordinates": [
        {
          "allele": "T",
          "end": 1717,
          "referenceAllele": "C",
          "start": 1716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.2:c.1441C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.Gln481Ter",
        "hgvsWellDefined": "NP_001275634.1:p.Gln481_Cys972delinsThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827510865",
      "coordinates": [
        {
          "allele": "T",
          "end": 1814,
          "referenceAllele": "C",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001349736.1:c.1441C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336665.1:p.Gln481Ter",
        "hgvsWellDefined": "NP_001336665.1:p.Gln481_Cys972delinsThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826712746",
      "coordinates": [
        {
          "allele": "T",
          "end": 1568,
          "referenceAllele": "C",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001288705.3:c.1441C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275634.1:p.Gln481Ter",
        "hgvsWellDefined": "NP_001275634.1:p.Gln481_Cys972delinsThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682488",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675795.1:c.1441C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001288705.3:c.1441C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501699.1:p.Gln481Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001275634.1:p.Gln481Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828578761",
      "coordinates": [
        {
          "allele": "T",
          "end": 1831,
          "referenceAllele": "C",
          "start": 1830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001375320.1:c.1441C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362249.1:p.Gln481Ter",
        "hgvsWellDefined": "NP_001362249.1:p.Gln481_Cys972delinsThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828579205",
      "coordinates": [
        {
          "allele": "T",
          "end": 1497,
          "referenceAllele": "C",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001375321.1:c.997C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362250.1:p.Gln333Ter",
        "hgvsWellDefined": "NP_001362250.1:p.Gln333_Cys824delinsThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1497,
          "referenceAllele": "C",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_164679.1:n.1497C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827510865",
      "coordinates": [
        {
          "allele": "T",
          "end": 1812,
          "referenceAllele": "C",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_001349736.2:c.1441C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336665.1:p.Gln481Ter",
        "hgvsWellDefined": "NP_001336665.1:p.Gln481_Cys972delinsThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719418"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806815",
      "coordinates": [
        {
          "allele": "T",
          "end": 1726,
          "referenceAllele": "C",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NM_005211.4:c.1441C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005202.2:p.Gln481Ter",
        "hgvsWellDefined": "NP_005202.2:p.Gln481_Cys972delinsThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1568,
          "referenceAllele": "C",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NR_109969.2:n.1568C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730686"
    }
  ],
  "type": "nucleotide"
}