{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10588665",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.1405C>T (p.Arg469Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260185[alleleid]",
        "alleleId": 260185,
        "preferredName": "NM_000088.4(COL1A1):c.1405C>T (p.Arg469Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265434",
        "RCV": [
          "RCV000254741",
          "RCV000818022"
        ],
        "variationId": 265434
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48272138G>A?assembly=hg19",
        "id": "chr17:g.48272138G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50194777G>A?assembly=hg38",
        "id": "chr17:g.50194777G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762428889",
        "rs": 762428889
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50194777-G-A?dataset=gnomad_r4",
        "id": "17-50194777-G-A",
        "variant": "17:50194777 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 50194777,
          "referenceAllele": "G",
          "start": 50194776
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50194777G>A",
        "CM000679.2:g.50194777G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 48272138,
          "referenceAllele": "G",
          "start": 48272137
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48272138G>A",
        "CM000679.1:g.48272138G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 45627137,
          "referenceAllele": "G",
          "start": 45627136
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45627137G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11863,
          "referenceAllele": "C",
          "start": 11862
        }
      ],
      "hgvs": [
        "NG_007400.1:g.11863C>T",
        "LRG_1:g.11863C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.1405C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.6:p.Arg469Ter",
        "hgvsWellDefined": "ENSP00000225964.6:p.Arg469_Leu1464delinsGlyAlaArgGlyGluProGlyProThrGlyLeuProGlyProProGlyGluArgGlyGlyProGlySerArgGlyPheProGlyAlaAspGlyValAlaGlyProLysGlyProAlaGlyGluArgGlySerProGlyProAlaGlyProLysGlySerProGlyGluAlaGlyArgProGlyGluAlaGlyLeuProGlyAlaLysGlyLeuThrGlySerProGlySerProGlyProAspGlyLysThrGlyProProGlyProAlaGlyGlnAspGlyArgProGlyProProGlyProProGlyAlaArgGlyGlnAlaGlyValMetGlyPheProGlyProLysGlyAlaAlaGlyGluProGlyLysAlaGlyGluArgGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.1405C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.1405C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Arg469Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Arg469Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.1405C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.5:p.Arg469Ter",
        "hgvsWellDefined": "ENSP00000225964.5:p.Arg469_Leu1464delinsGlyAlaArgGlyGluProGlyProThrGlyLeuProGlyProProGlyGluArgGlyGlyProGlySerArgGlyPheProGlyAlaAspGlyValAlaGlyProLysGlyProAlaGlyGluArgGlySerProGlyProAlaGlyProLysGlySerProGlyGluAlaGlyArgProGlyGluAlaGlyLeuProGlyAlaLysGlyLeuThrGlySerProGlySerProGlyProAspGlyLysThrGlyProProGlyProAlaGlyGlnAspGlyArgProGlyProProGlyProProGlyAlaArgGlyGlnAlaGlyValMetGlyPheProGlyProLysGlyAlaAlaGlyGluProGlyLysAlaGlyGluArgGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000471344.1:n.349C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645451924",
      "coordinates": [
        {
          "allele": "T",
          "end": 1531,
          "referenceAllele": "C",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.1405C>T",
        "LRG_1t1:c.1405C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Arg469Ter",
        "hgvsWellDefined": "NP_000079.2:p.Arg469_Leu1464delinsGlyAlaArgGlyGluProGlyProThrGlyLeuProGlyProProGlyGluArgGlyGlyProGlySerArgGlyPheProGlyAlaAspGlyValAlaGlyProLysGlyProAlaGlyGluArgGlySerProGlyProAlaGlyProLysGlySerProGlyGluAlaGlyArgProGlyGluAlaGlyLeuProGlyAlaLysGlyLeuThrGlySerProGlySerProGlyProAspGlyLysThrGlyProProGlyProAlaGlyGlnAspGlyArgProGlyProProGlyProProGlyAlaArgGlyGlnAlaGlyValMetGlyPheProGlyProLysGlyAlaAlaGlyGluProGlyLysAlaGlyGluArgGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.1405C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Arg469Ter",
        "hgvsWellDefined": "XP_005257115.2:p.Arg469_Leu1374delinsGlyAlaArgGlyGluProGlyProThrGlyLeuProGlyProProGlyGluArgGlyGlyProGlySerArgGlyPheProGlyAlaAspGlyValAlaGlyProLysGlyProAlaGlyGluArgGlySerProGlyProAlaGlyProLysGlySerProGlyGluAlaGlyArgProGlyGluAlaGlyLeuProGlyAlaLysGlyLeuThrGlySerProGlySerProGlyProAspGlyLysThrGlyProProGlyProAlaGlyGlnAspGlyArgProGlyProProGlyProProGlyAlaArgGlyGlnAlaGlyValMetGlyPheProGlyProLysGlyAlaAlaGlyGluProGlyLysAlaGlyGluArgGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "endIntronDirection": "+",
          "endIntronOffset": 1537,
          "referenceAllele": "C",
          "start": 1091,
          "startIntronDirection": "+",
          "startIntronOffset": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.957+1537C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:n.957+1537C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522643.1:p.Arg403Ter",
        "hgvsWellDefined": "XP_011522643.1:p.Arg403_Leu1398delinsGlyAlaArgGlyGluProGlyProThrGlyLeuProGlyProProGlyGluArgGlyGlyProGlySerArgGlyPheProGlyAlaAspGlyValAlaGlyProLysGlyProAlaGlyGluArgGlySerProGlyProAlaGlyProLysGlySerProGlyGluAlaGlyArgProGlyGluAlaGlyLeuProGlyAlaLysGlyLeuThrGlySerProGlySerProGlyProAspGlyLysThrGlyProProGlyProAlaGlyGlnAspGlyArgProGlyProProGlyProProGlyAlaArgGlyGlnAlaGlyValMetGlyPheProGlyProLysGlyAlaAlaGlyGluProGlyLysAlaGlyGluArgGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.1405C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Arg469Ter",
        "hgvsWellDefined": "XP_005257115.2:p.Arg469_Leu1374delinsGlyAlaArgGlyGluProGlyProThrGlyLeuProGlyProProGlyGluArgGlyGlyProGlySerArgGlyPheProGlyAlaAspGlyValAlaGlyProLysGlyProAlaGlyGluArgGlySerProGlyProAlaGlyProLysGlySerProGlyGluAlaGlyArgProGlyGluAlaGlyLeuProGlyAlaLysGlyLeuThrGlySerProGlySerProGlyProAspGlyLysThrGlyProProGlyProAlaGlyGlnAspGlyArgProGlyProProGlyProProGlyAlaArgGlyGlnAlaGlyValMetGlyPheProGlyProLysGlyAlaAlaGlyGluProGlyLysAlaGlyGluArgGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "endIntronDirection": "+",
          "endIntronOffset": 1537,
          "referenceAllele": "C",
          "start": 1092,
          "startIntronDirection": "+",
          "startIntronOffset": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.957+1537C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:n.957+1537C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645451924",
      "coordinates": [
        {
          "allele": "T",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.1405C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Arg469Ter",
        "hgvsWellDefined": "NP_000079.2:p.Arg469_Leu1464delinsGlyAlaArgGlyGluProGlyProThrGlyLeuProGlyProProGlyGluArgGlyGlyProGlySerArgGlyPheProGlyAlaAspGlyValAlaGlyProLysGlyProAlaGlyGluArgGlySerProGlyProAlaGlyProLysGlySerProGlyGluAlaGlyArgProGlyGluAlaGlyLeuProGlyAlaLysGlyLeuThrGlySerProGlySerProGlyProAspGlyLysThrGlyProProGlyProAlaGlyGlnAspGlyArgProGlyProProGlyProProGlyAlaArgGlyGlnAlaGlyValMetGlyPheProGlyProLysGlyAlaAlaGlyGluProGlyLysAlaGlyGluArgGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.1405C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.1405C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Arg469Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Arg469Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}