{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA398243513",
  "communityStandardTitle": [
    "NM_001146312.3(MYOCD):c.343C>T (p.Arg115Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6213826",
        "active": true,
        "id": "COSM6213826"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6213827",
        "active": true,
        "id": "COSM6213827"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6213828",
        "active": true,
        "id": "COSM6213828"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=677115[alleleid]",
        "alleleId": 677115,
        "preferredName": "NM_001146312.3(MYOCD):c.343C>T (p.Arg115Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/689480",
        "RCV": [
          "RCV000850243",
          "RCV000984630"
        ],
        "variationId": 689480
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.12626253C>T?assembly=hg19",
        "id": "chr17:g.12626253C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.12722936C>T?assembly=hg38",
        "id": "chr17:g.12722936C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1597782599",
        "rs": 1597782599
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-12722936-C-T?dataset=gnomad_r4",
        "id": "17-12722936-C-T",
        "variant": "17:12722936 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 12722936,
          "referenceAllele": "C",
          "start": 12722935
        }
      ],
      "hgvs": [
        "NC_000017.11:g.12722936C>T",
        "CM000679.2:g.12722936C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 12626253,
          "referenceAllele": "C",
          "start": 12626252
        }
      ],
      "hgvs": [
        "NC_000017.10:g.12626253C>T",
        "CM000679.1:g.12626253C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 12566978,
          "referenceAllele": "C",
          "start": 12566977
        }
      ],
      "hgvs": [
        "NC_000017.9:g.12566978C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62047,
          "referenceAllele": "C",
          "start": 62046
        }
      ],
      "hgvs": [
        "NG_012972.1:g.62047C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002641"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016067",
      "geneNCBI_id": 93649,
      "geneSymbol": "MYOCD",
      "hgvs": [
        "ENST00000425538.6:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401678.1:p.Arg115Ter",
        "hgvsWellDefined": "ENSP00000401678.1:p.Arg115_Trp986delinsProGlyProLeuGluLeuValGluLysAsnIleLeuProValAspSerAlaValLysGluAlaIleLysGlyAsnGlnValSerPheSerLysSerThrAspAlaPheAlaPheGluGluAspSerSerSerAspGlyLeuSerProAspGlnThrArgSerGluAspProGlnAsnSerAlaGlySerProProAspAlaLysAlaSerAspThrProSerThrGlySerLeuGlyThrAsnGlnAspLeuAlaSerGlySerGluAsnAspArgAsnAspSerAlaSerGlnProSerHisGlnSerAspAlaGlyLysGlnGlyLeuGlyProProSerThrProIleAlaValHisAlaAlaValLysSerLysSerLeuGlyAspSerLysAsnArgHisLysLysProLysAspProLysProLysValLysLysLeuLysTyrHisGlnTyrIleProProAspGlnLysAlaGluLysSerProProProMetAspSerAlaTyrAlaArgLeuLeuGlnGlnGlnGlnLeuPheLeuGlnLeuGlnIleLeuSerGlnGlnGlnGlnGlnGlnGlnHisArgPheSerTyrLeuGlyMetHisGlnAlaGlnLeuLysGluProAsnGluGlnMetValArgAsnProAsnSerSerSerThrProLeuSerAsnThrProLeuSerProValLysAsnSerPheSerGlyGlnThrGlyValSerSerPheLysProGlyProLeuProProAsnLeuAspAspLeuLysValSerGluLeuArgGlnGlnLeuArgIleArgGlyLeuProValSerGlyThrLysThrAlaLeuMetAspArgLeuArgProPheGlnAspCysSerGlyAsnProValProAsnPheGlyAspIleThrThrValThrPheProValThrProAsnThrLeuProAsnTyrGlnSerSerSerSerThrSerAlaLeuSerAsnGlyPheTyrHisPheGlySerThrSerSerSerProProIleSerProAlaSerSerAspLeuSerValAlaGlySerLeuProAspThrPheAsnAspAlaSerProSerPheGlyLeuHisProSerProValHisValCysThrGluGluSerLeuMetSerSerLeuAsnGlyGlySerValProSerGluLeuAspGlyLeuAspSerGluLysAspLysMetLeuValGluLysGlnLysValIleAsnGluLeuThrTrpLysLeuGlnGlnGluGlnArgGlnValGluGluLeuArgMetGlnLeuGlnLysGlnLysArgAsnAsnCysSerGluLysLysProLeuProPheLeuAlaAlaSerIleLysGlnGluGluAlaValSerSerCysProPheAlaSerGlnValProValLysArgGlnSerSerSerSerGluCysHisProProAlaCysGluAlaAlaGlnLeuGlnProLeuGlyAsnAlaHisCysValGluSerSerAspGlnThrAsnValLeuSerSerThrPheLeuSerProGlnCysSerProGlnHisSerProLeuGlyAlaValLysSerProGlnHisIleSerLeuProProSerProAsnAsnProHisPheLeuProSerSerSerGlyAlaGlnGlyGluGlyHisArgValSerSerProIleSerSerGlnValCysThrAlaGlnAsnSerGlyAlaHisAspGlyHisProProSerPheSerProHisSerSerSerLeuHisProProPheSerGlyAlaGlnAlaAspSerSerHisGlyAlaGlyGlyAsnProCysProLysSerProCysValGlnGlnLysMetAlaGlyLeuHisSerSerAspLysValGlyProLysPheSerIleProSerProThrPheSerLysSerSerSerAlaIleSerGluValThrGlnProProSerTyrGluAspAlaValLysGlnGlnMetThrArgSerGlnGlnMetAspGluLeuLeuAspValLeuIleGluSerGlyGluMetProAlaAspAlaArgGluAspHisSerCysLeuGlnLysValProLysIleProArgSerSerArgSerProThrAlaValLeuThrLysProSerAlaSerPheGluGlnAlaSerSerGlySerGlnIleProPheAspProTyrAlaThrAspSerAspGluHisLeuGluValLeuLeuAsnSerGlnSerProLeuGlyLysMetSerAspValThrLeuLeuLysIleGlySerGluGluProHisPheAspGlyIleMetAspGlyPheSerGlyLysAlaAlaGluAspLeuPheAsnAlaHisGluIleLeuProGlyProLeuSerProMetGlnThrGlnPheSerProSerSerValAspSerAsnGlyLeuGlnLeuSerPheThrGluSerProTrpGluThrMetGluTrpLeuAspLeuThrProProAsnSerThrProGlyPheSerAlaLeuThrThrSerSerProSerIlePheAsnIleAspPheLeuAspValThrAspLeuAsnLeuAsnSerSerMetAspLeuHisLeuGlnGlnTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755085",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000425538.6:c.343C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001146312.3:c.343C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000401678.1:p.Arg115Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001139784.1:p.Arg115Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 343,
          "referenceAllele": "C",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016067",
      "geneNCBI_id": 93649,
      "geneSymbol": "MYOCD",
      "hgvs": [
        "ENST00000343344.8:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341835.4:p.Arg115Ter",
        "hgvsWellDefined": "ENSP00000341835.4:p.Arg115_Trp938delinsProGlyProLeuGluLeuValGluLysAsnIleLeuProValAspSerAlaValLysGluAlaIleLysGlyAsnGlnValSerPheSerLysSerThrAspAlaPheAlaPheGluGluAspSerSerSerAspGlyLeuSerProAspGlnThrArgSerGluAspProGlnAsnSerAlaGlySerProProAspAlaLysAlaSerAspThrProSerThrGlySerLeuGlyThrAsnGlnAspLeuAlaSerGlySerGluAsnAspArgAsnAspSerAlaSerGlnProSerHisGlnSerAspAlaGlyLysGlnGlyLeuGlyProProSerThrProIleAlaValHisAlaAlaValLysSerLysSerLeuGlyAspSerLysAsnArgHisLysLysProLysAspProLysProLysValLysLysLeuLysTyrHisGlnTyrIleProProAspGlnLysAlaGluLysSerProProProMetAspSerAlaTyrAlaArgLeuLeuGlnGlnGlnGlnLeuPheLeuGlnLeuGlnIleLeuSerGlnGlnGlnGlnGlnGlnGlnHisArgPheSerTyrLeuGlyMetHisGlnAlaGlnLeuLysGluProAsnGluGlnMetValArgAsnProAsnSerSerSerThrProLeuSerAsnThrProLeuSerProValLysAsnSerPheSerGlyGlnThrGlyValSerSerPheLysProGlyProLeuProProAsnLeuAspAspLeuLysValSerGluLeuArgGlnGlnLeuArgIleArgGlyLeuProValSerGlyThrLysThrAlaLeuMetAspArgLeuArgProPheGlnAspCysSerGlyAsnProValProAsnPheGlyAspIleThrThrValThrPheProValThrProAsnThrLeuProAsnTyrGlnSerSerSerSerThrSerAlaLeuSerAsnGlyPheTyrHisPheGlySerThrSerSerSerProProIleSerProAlaSerSerAspLeuSerValAlaGlySerLeuProAspThrPheAsnAspAlaSerProSerPheGlyLeuHisProSerProValHisValCysThrGluGluSerLeuMetSerSerLeuAsnGlyGlySerValProSerGluLeuAspGlyLeuAspSerGluLysAspLysMetLeuValGluLysGlnLysValIleAsnGluLeuThrTrpLysLeuGlnGlnGluGlnArgGlnValGluGluLeuArgMetGlnLeuGlnLysGlnLysArgAsnAsnCysSerGluLysLysProLeuProPheLeuAlaAlaSerIleLysGlnGluGluAlaValSerSerCysProPheAlaSerGlnValProValLysArgGlnSerSerSerSerGluCysHisProProAlaCysGluAlaAlaGlnLeuGlnProLeuGlyAsnAlaHisCysValGluSerSerAspGlnThrAsnValLeuSerSerThrPheLeuSerProGlnCysSerProGlnHisSerProLeuGlyAlaValLysSerProGlnHisIleSerLeuProProSerProAsnAsnProHisPheLeuProSerSerSerGlyAlaGlnGlyGluGlyHisArgValSerSerProIleSerSerGlnValCysThrAlaGlnMetAlaGlyLeuHisSerSerAspLysValGlyProLysPheSerIleProSerProThrPheSerLysSerSerSerAlaIleSerGluValThrGlnProProSerTyrGluAspAlaValLysGlnGlnMetThrArgSerGlnGlnMetAspGluLeuLeuAspValLeuIleGluSerGlyGluMetProAlaAspAlaArgGluAspHisSerCysLeuGlnLysValProLysIleProArgSerSerArgSerProThrAlaValLeuThrLysProSerAlaSerPheGluGlnAlaSerSerGlySerGlnIleProPheAspProTyrAlaThrAspSerAspGluHisLeuGluValLeuLeuAsnSerGlnSerProLeuGlyLysMetSerAspValThrLeuLeuLysIleGlySerGluGluProHisPheAspGlyIleMetAspGlyPheSerGlyLysAlaAlaGluAspLeuPheAsnAlaHisGluIleLeuProGlyProLeuSerProMetGlnThrGlnPheSerProSerSerValAspSerAsnGlyLeuGlnLeuSerPheThrGluSerProTrpGluThrMetGluTrpLeuAspLeuThrProProAsnSerThrProGlyPheSerAlaLeuThrThrSerSerProSerIlePheAsnIleAspPheLeuAspValThrAspLeuAsnLeuAsnSerSerMetAspLeuHisLeuGlnGlnTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 263,
          "referenceAllele": "C",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016067",
      "geneNCBI_id": 93649,
      "geneSymbol": "MYOCD",
      "hgvs": [
        "ENST00000395988.1:n.263C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS277029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016067",
      "geneNCBI_id": 93649,
      "geneSymbol": "MYOCD",
      "hgvs": [
        "ENST00000425538.5:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401678.1:p.Arg115Ter",
        "hgvsWellDefined": "ENSP00000401678.1:p.Arg115_Trp986delinsProGlyProLeuGluLeuValGluLysAsnIleLeuProValAspSerAlaValLysGluAlaIleLysGlyAsnGlnValSerPheSerLysSerThrAspAlaPheAlaPheGluGluAspSerSerSerAspGlyLeuSerProAspGlnThrArgSerGluAspProGlnAsnSerAlaGlySerProProAspAlaLysAlaSerAspThrProSerThrGlySerLeuGlyThrAsnGlnAspLeuAlaSerGlySerGluAsnAspArgAsnAspSerAlaSerGlnProSerHisGlnSerAspAlaGlyLysGlnGlyLeuGlyProProSerThrProIleAlaValHisAlaAlaValLysSerLysSerLeuGlyAspSerLysAsnArgHisLysLysProLysAspProLysProLysValLysLysLeuLysTyrHisGlnTyrIleProProAspGlnLysAlaGluLysSerProProProMetAspSerAlaTyrAlaArgLeuLeuGlnGlnGlnGlnLeuPheLeuGlnLeuGlnIleLeuSerGlnGlnGlnGlnGlnGlnGlnHisArgPheSerTyrLeuGlyMetHisGlnAlaGlnLeuLysGluProAsnGluGlnMetValArgAsnProAsnSerSerSerThrProLeuSerAsnThrProLeuSerProValLysAsnSerPheSerGlyGlnThrGlyValSerSerPheLysProGlyProLeuProProAsnLeuAspAspLeuLysValSerGluLeuArgGlnGlnLeuArgIleArgGlyLeuProValSerGlyThrLysThrAlaLeuMetAspArgLeuArgProPheGlnAspCysSerGlyAsnProValProAsnPheGlyAspIleThrThrValThrPheProValThrProAsnThrLeuProAsnTyrGlnSerSerSerSerThrSerAlaLeuSerAsnGlyPheTyrHisPheGlySerThrSerSerSerProProIleSerProAlaSerSerAspLeuSerValAlaGlySerLeuProAspThrPheAsnAspAlaSerProSerPheGlyLeuHisProSerProValHisValCysThrGluGluSerLeuMetSerSerLeuAsnGlyGlySerValProSerGluLeuAspGlyLeuAspSerGluLysAspLysMetLeuValGluLysGlnLysValIleAsnGluLeuThrTrpLysLeuGlnGlnGluGlnArgGlnValGluGluLeuArgMetGlnLeuGlnLysGlnLysArgAsnAsnCysSerGluLysLysProLeuProPheLeuAlaAlaSerIleLysGlnGluGluAlaValSerSerCysProPheAlaSerGlnValProValLysArgGlnSerSerSerSerGluCysHisProProAlaCysGluAlaAlaGlnLeuGlnProLeuGlyAsnAlaHisCysValGluSerSerAspGlnThrAsnValLeuSerSerThrPheLeuSerProGlnCysSerProGlnHisSerProLeuGlyAlaValLysSerProGlnHisIleSerLeuProProSerProAsnAsnProHisPheLeuProSerSerSerGlyAlaGlnGlyGluGlyHisArgValSerSerProIleSerSerGlnValCysThrAlaGlnAsnSerGlyAlaHisAspGlyHisProProSerPheSerProHisSerSerSerLeuHisProProPheSerGlyAlaGlnAlaAspSerSerHisGlyAlaGlyGlyAsnProCysProLysSerProCysValGlnGlnLysMetAlaGlyLeuHisSerSerAspLysValGlyProLysPheSerIleProSerProThrPheSerLysSerSerSerAlaIleSerGluValThrGlnProProSerTyrGluAspAlaValLysGlnGlnMetThrArgSerGlnGlnMetAspGluLeuLeuAspValLeuIleGluSerGlyGluMetProAlaAspAlaArgGluAspHisSerCysLeuGlnLysValProLysIleProArgSerSerArgSerProThrAlaValLeuThrLysProSerAlaSerPheGluGlnAlaSerSerGlySerGlnIleProPheAspProTyrAlaThrAspSerAspGluHisLeuGluValLeuLeuAsnSerGlnSerProLeuGlyLysMetSerAspValThrLeuLeuLysIleGlySerGluGluProHisPheAspGlyIleMetAspGlyPheSerGlyLysAlaAlaGluAspLeuPheAsnAlaHisGluIleLeuProGlyProLeuSerProMetGlnThrGlnPheSerProSerSerValAspSerAsnGlyLeuGlnLeuSerPheThrGluSerProTrpGluThrMetGluTrpLeuAspLeuThrProProAsnSerThrProGlyPheSerAlaLeuThrThrSerSerProSerIlePheAsnIleAspPheLeuAspValThrAspLeuAsnLeuAsnSerSerMetAspLeuHisLeuGlnGlnTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825929530",
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016067",
      "geneNCBI_id": 93649,
      "geneSymbol": "MYOCD",
      "hgvs": [
        "NM_001146312.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139784.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_001139784.1:p.Arg115_Trp986delinsProGlyProLeuGluLeuValGluLysAsnIleLeuProValAspSerAlaValLysGluAlaIleLysGlyAsnGlnValSerPheSerLysSerThrAspAlaPheAlaPheGluGluAspSerSerSerAspGlyLeuSerProAspGlnThrArgSerGluAspProGlnAsnSerAlaGlySerProProAspAlaLysAlaSerAspThrProSerThrGlySerLeuGlyThrAsnGlnAspLeuAlaSerGlySerGluAsnAspArgAsnAspSerAlaSerGlnProSerHisGlnSerAspAlaGlyLysGlnGlyLeuGlyProProSerThrProIleAlaValHisAlaAlaValLysSerLysSerLeuGlyAspSerLysAsnArgHisLysLysProLysAspProLysProLysValLysLysLeuLysTyrHisGlnTyrIleProProAspGlnLysAlaGluLysSerProProProMetAspSerAlaTyrAlaArgLeuLeuGlnGlnGlnGlnLeuPheLeuGlnLeuGlnIleLeuSerGlnGlnGlnGlnGlnGlnGlnHisArgPheSerTyrLeuGlyMetHisGlnAlaGlnLeuLysGluProAsnGluGlnMetValArgAsnProAsnSerSerSerThrProLeuSerAsnThrProLeuSerProValLysAsnSerPheSerGlyGlnThrGlyValSerSerPheLysProGlyProLeuProProAsnLeuAspAspLeuLysValSerGluLeuArgGlnGlnLeuArgIleArgGlyLeuProValSerGlyThrLysThrAlaLeuMetAspArgLeuArgProPheGlnAspCysSerGlyAsnProValProAsnPheGlyAspIleThrThrValThrPheProValThrProAsnThrLeuProAsnTyrGlnSerSerSerSerThrSerAlaLeuSerAsnGlyPheTyrHisPheGlySerThrSerSerSerProProIleSerProAlaSerSerAspLeuSerValAlaGlySerLeuProAspThrPheAsnAspAlaSerProSerPheGlyLeuHisProSerProValHisValCysThrGluGluSerLeuMetSerSerLeuAsnGlyGlySerValProSerGluLeuAspGlyLeuAspSerGluLysAspLysMetLeuValGluLysGlnLysValIleAsnGluLeuThrTrpLysLeuGlnGlnGluGlnArgGlnValGluGluLeuArgMetGlnLeuGlnLysGlnLysArgAsnAsnCysSerGluLysLysProLeuProPheLeuAlaAlaSerIleLysGlnGluGluAlaValSerSerCysProPheAlaSerGlnValProValLysArgGlnSerSerSerSerGluCysHisProProAlaCysGluAlaAlaGlnLeuGlnProLeuGlyAsnAlaHisCysValGluSerSerAspGlnThrAsnValLeuSerSerThrPheLeuSerProGlnCysSerProGlnHisSerProLeuGlyAlaValLysSerProGlnHisIleSerLeuProProSerProAsnAsnProHisPheLeuProSerSerSerGlyAlaGlnGlyGluGlyHisArgValSerSerProIleSerSerGlnValCysThrAlaGlnAsnSerGlyAlaHisAspGlyHisProProSerPheSerProHisSerSerSerLeuHisProProPheSerGlyAlaGlnAlaAspSerSerHisGlyAlaGlyGlyAsnProCysProLysSerProCysValGlnGlnLysMetAlaGlyLeuHisSerSerAspLysValGlyProLysPheSerIleProSerProThrPheSerLysSerSerSerAlaIleSerGluValThrGlnProProSerTyrGluAspAlaValLysGlnGlnMetThrArgSerGlnGlnMetAspGluLeuLeuAspValLeuIleGluSerGlyGluMetProAlaAspAlaArgGluAspHisSerCysLeuGlnLysValProLysIleProArgSerSerArgSerProThrAlaValLeuThrLysProSerAlaSerPheGluGlnAlaSerSerGlySerGlnIleProPheAspProTyrAlaThrAspSerAspGluHisLeuGluValLeuLeuAsnSerGlnSerProLeuGlyLysMetSerAspValThrLeuLeuLysIleGlySerGluGluProHisPheAspGlyIleMetAspGlyPheSerGlyLysAlaAlaGluAspLeuPheAsnAlaHisGluIleLeuProGlyProLeuSerProMetGlnThrGlnPheSerProSerSerValAspSerAsnGlyLeuGlnLeuSerPheThrGluSerProTrpGluThrMetGluTrpLeuAspLeuThrProProAsnSerThrProGlyPheSerAlaLeuThrThrSerSerProSerIlePheAsnIleAspPheLeuAspValThrAspLeuAsnLeuAsnSerSerMetAspLeuHisLeuGlnGlnTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013948"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916055611",
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016067",
      "geneNCBI_id": 93649,
      "geneSymbol": "MYOCD",
      "hgvs": [
        "NM_153604.3:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_705832.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_705832.1:p.Arg115_Trp938delinsProGlyProLeuGluLeuValGluLysAsnIleLeuProValAspSerAlaValLysGluAlaIleLysGlyAsnGlnValSerPheSerLysSerThrAspAlaPheAlaPheGluGluAspSerSerSerAspGlyLeuSerProAspGlnThrArgSerGluAspProGlnAsnSerAlaGlySerProProAspAlaLysAlaSerAspThrProSerThrGlySerLeuGlyThrAsnGlnAspLeuAlaSerGlySerGluAsnAspArgAsnAspSerAlaSerGlnProSerHisGlnSerAspAlaGlyLysGlnGlyLeuGlyProProSerThrProIleAlaValHisAlaAlaValLysSerLysSerLeuGlyAspSerLysAsnArgHisLysLysProLysAspProLysProLysValLysLysLeuLysTyrHisGlnTyrIleProProAspGlnLysAlaGluLysSerProProProMetAspSerAlaTyrAlaArgLeuLeuGlnGlnGlnGlnLeuPheLeuGlnLeuGlnIleLeuSerGlnGlnGlnGlnGlnGlnGlnHisArgPheSerTyrLeuGlyMetHisGlnAlaGlnLeuLysGluProAsnGluGlnMetValArgAsnProAsnSerSerSerThrProLeuSerAsnThrProLeuSerProValLysAsnSerPheSerGlyGlnThrGlyValSerSerPheLysProGlyProLeuProProAsnLeuAspAspLeuLysValSerGluLeuArgGlnGlnLeuArgIleArgGlyLeuProValSerGlyThrLysThrAlaLeuMetAspArgLeuArgProPheGlnAspCysSerGlyAsnProValProAsnPheGlyAspIleThrThrValThrPheProValThrProAsnThrLeuProAsnTyrGlnSerSerSerSerThrSerAlaLeuSerAsnGlyPheTyrHisPheGlySerThrSerSerSerProProIleSerProAlaSerSerAspLeuSerValAlaGlySerLeuProAspThrPheAsnAspAlaSerProSerPheGlyLeuHisProSerProValHisValCysThrGluGluSerLeuMetSerSerLeuAsnGlyGlySerValProSerGluLeuAspGlyLeuAspSerGluLysAspLysMetLeuValGluLysGlnLysValIleAsnGluLeuThrTrpLysLeuGlnGlnGluGlnArgGlnValGluGluLeuArgMetGlnLeuGlnLysGlnLysArgAsnAsnCysSerGluLysLysProLeuProPheLeuAlaAlaSerIleLysGlnGluGluAlaValSerSerCysProPheAlaSerGlnValProValLysArgGlnSerSerSerSerGluCysHisProProAlaCysGluAlaAlaGlnLeuGlnProLeuGlyAsnAlaHisCysValGluSerSerAspGlnThrAsnValLeuSerSerThrPheLeuSerProGlnCysSerProGlnHisSerProLeuGlyAlaValLysSerProGlnHisIleSerLeuProProSerProAsnAsnProHisPheLeuProSerSerSerGlyAlaGlnGlyGluGlyHisArgValSerSerProIleSerSerGlnValCysThrAlaGlnMetAlaGlyLeuHisSerSerAspLysValGlyProLysPheSerIleProSerProThrPheSerLysSerSerSerAlaIleSerGluValThrGlnProProSerTyrGluAspAlaValLysGlnGlnMetThrArgSerGlnGlnMetAspGluLeuLeuAspValLeuIleGluSerGlyGluMetProAlaAspAlaArgGluAspHisSerCysLeuGlnLysValProLysIleProArgSerSerArgSerProThrAlaValLeuThrLysProSerAlaSerPheGluGlnAlaSerSerGlySerGlnIleProPheAspProTyrAlaThrAspSerAspGluHisLeuGluValLeuLeuAsnSerGlnSerProLeuGlyLysMetSerAspValThrLeuLeuLysIleGlySerGluGluProHisPheAspGlyIleMetAspGlyPheSerGlyLysAlaAlaGluAspLeuPheAsnAlaHisGluIleLeuProGlyProLeuSerProMetGlnThrGlnPheSerProSerSerValAspSerAsnGlyLeuGlnLeuSerPheThrGluSerProTrpGluThrMetGluTrpLeuAspLeuThrProProAsnSerThrProGlyPheSerAlaLeuThrThrSerSerProSerIlePheAsnIleAspPheLeuAspValThrAspLeuAsnLeuAsnSerSerMetAspLeuHisLeuGlnGlnTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016067",
      "geneNCBI_id": 93649,
      "geneSymbol": "MYOCD",
      "hgvs": [
        "XM_005256863.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256920.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_005256920.1:p.Arg115_Trp943delinsProGlyProLeuGluLeuValGluLysAsnIleLeuProValAspSerAlaValLysGluAlaIleLysGlyAsnGlnValSerPheSerLysSerThrAspAlaPheAlaPheGluGluAspSerSerSerAspGlyLeuSerProAspGlnThrArgSerGluAspProGlnAsnSerAlaGlySerProProAspAlaLysAlaSerAspThrProSerThrGlySerLeuGlyThrAsnGlnAspLeuAlaSerGlySerGluAsnAspArgAsnAspSerAlaSerGlnProSerHisGlnSerAspAlaGlyLysGlnGlyLeuGlyProProSerThrProIleAlaValHisAlaAlaValLysSerLysSerLeuGlyAspSerLysAsnArgHisLysLysProLysAspProLysProLysValLysLysLeuLysTyrHisGlnTyrIleProProAspGlnLysAlaGluLysSerProProProMetAspSerAlaTyrAlaArgLeuLeuGlnGlnGlnGlnLeuPheLeuGlnLeuGlnIleLeuSerGlnGlnGlnGlnGlnGlnGlnHisArgPheSerTyrLeuGlyMetHisGlnAlaGlnLeuLysGluProAsnGluGlnMetValArgAsnProAsnSerSerSerThrProLeuSerAsnThrProLeuSerProValLysAsnSerPheSerGlyGlnThrGlyValSerSerPheLysProGlyProLeuProProAsnLeuAspAspLeuLysValSerGluLeuArgGlnGlnLeuArgIleArgGlyLeuProValSerGlyThrLysThrAlaLeuMetAspArgLeuArgProPheGlnAspCysSerGlyAsnProValProAsnPheGlyAspIleThrThrValThrPheProValThrProAsnThrLeuProAsnTyrGlnSerSerSerSerThrSerAlaLeuSerAsnGlyPheTyrHisPheGlySerThrSerSerSerProProIleSerProAlaSerSerAspLeuSerValAlaGlySerLeuProAspThrPheAsnAspAlaSerProSerPheGlyLeuHisProSerProValHisValCysThrGluGluSerLeuMetSerSerLeuAsnGlyGlySerValProSerGluLeuAspGlyLeuAspSerGluLysAspLysMetLeuValGluLysGlnLysValIleAsnGluLeuThrTrpLysLeuGlnGlnGluGlnArgGlnValGluGluLeuArgMetGlnLeuGlnLysGlnLysArgAsnAsnCysSerGluLysLysProLeuProPheLeuAlaAlaSerIleLysGlnGluGluAlaValSerSerCysProPheAlaSerGlnValProValLysArgGlnSerSerSerSerGluCysHisProProAlaCysGluAlaAlaGlnLeuGlnProLeuGlyAsnAlaHisCysValGluSerSerAspGlnThrAsnValLeuSerSerThrPheLeuSerProGlnCysSerProGlnHisSerProLeuGlyAlaValLysSerProGlnHisIleSerLeuProProSerProAsnAsnProHisPheLeuProSerSerSerGlyAlaGlnGlyGluGlyHisArgValSerSerProIleSerSerGlnValCysThrAlaGlnAsnSerGlyAlaHisAspGlyHisProProSerPheSerProHisSerSerSerLeuHisProProPheSerGlyAlaGlnAlaAspSerSerHisGlyAlaGlyGlyAsnProCysProLysSerProCysValGlnGlnLysGlnMetThrArgSerGlnGlnMetAspGluLeuLeuAspValLeuIleGluSerGlyGluMetProAlaAspAlaArgGluAspHisSerCysLeuGlnLysValProLysIleProArgSerSerArgSerProThrAlaValLeuThrLysProSerAlaSerPheGluGlnAlaSerSerGlySerGlnIleProPheAspProTyrAlaThrAspSerAspGluHisLeuGluValLeuLeuAsnSerGlnSerProLeuGlyLysMetSerAspValThrLeuLeuLysIleGlySerGluGluProHisPheAspGlyIleMetAspGlyPheSerGlyLysAlaAlaGluAspLeuPheAsnAlaHisGluIleLeuProGlyProLeuSerProMetGlnThrGlnPheSerProSerSerValAspSerAsnGlyLeuGlnLeuSerPheThrGluSerProTrpGluThrMetGluTrpLeuAspLeuThrProProAsnSerThrProGlyPheSerAlaLeuThrThrSerSerProSerIlePheAsnIleAspPheLeuAspValThrAspLeuAsnLeuAsnSerSerMetAspLeuHisLeuGlnGlnTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016067",
      "geneNCBI_id": 93649,
      "geneSymbol": "MYOCD",
      "hgvs": [
        "XM_005256864.1:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256921.1:p.Arg36Ter",
        "hgvsWellDefined": "XP_005256921.1:p.Arg36_Trp907delinsProGlyProLeuGluLeuValGluLysAsnIleLeuProValAspSerAlaValLysGluAlaIleLysGlyAsnGlnValSerPheSerLysSerThrAspAlaPheAlaPheGluGluAspSerSerSerAspGlyLeuSerProAspGlnThrArgSerGluAspProGlnAsnSerAlaGlySerProProAspAlaLysAlaSerAspThrProSerThrGlySerLeuGlyThrAsnGlnAspLeuAlaSerGlySerGluAsnAspArgAsnAspSerAlaSerGlnProSerHisGlnSerAspAlaGlyLysGlnGlyLeuGlyProProSerThrProIleAlaValHisAlaAlaValLysSerLysSerLeuGlyAspSerLysAsnArgHisLysLysProLysAspProLysProLysValLysLysLeuLysTyrHisGlnTyrIleProProAspGlnLysAlaGluLysSerProProProMetAspSerAlaTyrAlaArgLeuLeuGlnGlnGlnGlnLeuPheLeuGlnLeuGlnIleLeuSerGlnGlnGlnGlnGlnGlnGlnHisArgPheSerTyrLeuGlyMetHisGlnAlaGlnLeuLysGluProAsnGluGlnMetValArgAsnProAsnSerSerSerThrProLeuSerAsnThrProLeuSerProValLysAsnSerPheSerGlyGlnThrGlyValSerSerPheLysProGlyProLeuProProAsnLeuAspAspLeuLysValSerGluLeuArgGlnGlnLeuArgIleArgGlyLeuProValSerGlyThrLysThrAlaLeuMetAspArgLeuArgProPheGlnAspCysSerGlyAsnProValProAsnPheGlyAspIleThrThrValThrPheProValThrProAsnThrLeuProAsnTyrGlnSerSerSerSerThrSerAlaLeuSerAsnGlyPheTyrHisPheGlySerThrSerSerSerProProIleSerProAlaSerSerAspLeuSerValAlaGlySerLeuProAspThrPheAsnAspAlaSerProSerPheGlyLeuHisProSerProValHisValCysThrGluGluSerLeuMetSerSerLeuAsnGlyGlySerValProSerGluLeuAspGlyLeuAspSerGluLysAspLysMetLeuValGluLysGlnLysValIleAsnGluLeuThrTrpLysLeuGlnGlnGluGlnArgGlnValGluGluLeuArgMetGlnLeuGlnLysGlnLysArgAsnAsnCysSerGluLysLysProLeuProPheLeuAlaAlaSerIleLysGlnGluGluAlaValSerSerCysProPheAlaSerGlnValProValLysArgGlnSerSerSerSerGluCysHisProProAlaCysGluAlaAlaGlnLeuGlnProLeuGlyAsnAlaHisCysValGluSerSerAspGlnThrAsnValLeuSerSerThrPheLeuSerProGlnCysSerProGlnHisSerProLeuGlyAlaValLysSerProGlnHisIleSerLeuProProSerProAsnAsnProHisPheLeuProSerSerSerGlyAlaGlnGlyGluGlyHisArgValSerSerProIleSerSerGlnValCysThrAlaGlnAsnSerGlyAlaHisAspGlyHisProProSerPheSerProHisSerSerSerLeuHisProProPheSerGlyAlaGlnAlaAspSerSerHisGlyAlaGlyGlyAsnProCysProLysSerProCysValGlnGlnLysMetAlaGlyLeuHisSerSerAspLysValGlyProLysPheSerIleProSerProThrPheSerLysSerSerSerAlaIleSerGluValThrGlnProProSerTyrGluAspAlaValLysGlnGlnMetThrArgSerGlnGlnMetAspGluLeuLeuAspValLeuIleGluSerGlyGluMetProAlaAspAlaArgGluAspHisSerCysLeuGlnLysValProLysIleProArgSerSerArgSerProThrAlaValLeuThrLysProSerAlaSerPheGluGlnAlaSerSerGlySerGlnIleProPheAspProTyrAlaThrAspSerAspGluHisLeuGluValLeuLeuAsnSerGlnSerProLeuGlyLysMetSerAspValThrLeuLeuLysIleGlySerGluGluProHisPheAspGlyIleMetAspGlyPheSerGlyLysAlaAlaGluAspLeuPheAsnAlaHisGluIleLeuProGlyProLeuSerProMetGlnThrGlnPheSerProSerSerValAspSerAsnGlyLeuGlnLeuSerPheThrGluSerProTrpGluThrMetGluTrpLeuAspLeuThrProProAsnSerThrProGlyPheSerAlaLeuThrThrSerSerProSerIlePheAsnIleAspPheLeuAspValThrAspLeuAsnLeuAsnSerSerMetAspLeuHisLeuGlnGlnTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016067",
      "geneNCBI_id": 93649,
      "geneSymbol": "MYOCD",
      "hgvs": [
        "XM_017025342.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880831.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_016880831.1:p.Arg115_Trp944delinsProGlyProLeuGluLeuValGluLysAsnIleLeuProValAspSerAlaValLysGluAlaIleLysGlyAsnGlnValSerPheSerLysSerThrAspAlaPheAlaPheGluGluAspSerSerSerAspGlyLeuSerProAspGlnThrArgSerGluAspProGlnAsnSerAlaGlySerProProAspAlaLysAlaSerAspThrProSerThrGlySerLeuGlyThrAsnGlnSerLysSerLeuGlyAspSerLysAsnArgHisLysLysProLysAspProLysProLysValLysLysLeuLysTyrHisGlnTyrIleProProAspGlnLysAlaGluLysSerProProProMetAspSerAlaTyrAlaArgLeuLeuGlnGlnGlnGlnLeuPheLeuGlnLeuGlnIleLeuSerGlnGlnGlnGlnGlnGlnGlnHisArgPheSerTyrLeuGlyMetHisGlnAlaGlnLeuLysGluProAsnGluGlnMetValArgAsnProAsnSerSerSerThrProLeuSerAsnThrProLeuSerProValLysAsnSerPheSerGlyGlnThrGlyValSerSerPheLysProGlyProLeuProProAsnLeuAspAspLeuLysValSerGluLeuArgGlnGlnLeuArgIleArgGlyLeuProValSerGlyThrLysThrAlaLeuMetAspArgLeuArgProPheGlnAspCysSerGlyAsnProValProAsnPheGlyAspIleThrThrValThrPheProValThrProAsnThrLeuProAsnTyrGlnSerSerSerSerThrSerAlaLeuSerAsnGlyPheTyrHisPheGlySerThrSerSerSerProProIleSerProAlaSerSerAspLeuSerValAlaGlySerLeuProAspThrPheAsnAspAlaSerProSerPheGlyLeuHisProSerProValHisValCysThrGluGluSerLeuMetSerSerLeuAsnGlyGlySerValProSerGluLeuAspGlyLeuAspSerGluLysAspLysMetLeuValGluLysGlnLysValIleAsnGluLeuThrTrpLysLeuGlnGlnGluGlnArgGlnValGluGluLeuArgMetGlnLeuGlnLysGlnLysArgAsnAsnCysSerGluLysLysProLeuProPheLeuAlaAlaSerIleLysGlnGluGluAlaValSerSerCysProPheAlaSerGlnValProValLysArgGlnSerSerSerSerGluCysHisProProAlaCysGluAlaAlaGlnLeuGlnProLeuGlyAsnAlaHisCysValGluSerSerAspGlnThrAsnValLeuSerSerThrPheLeuSerProGlnCysSerProGlnHisSerProLeuGlyAlaValLysSerProGlnHisIleSerLeuProProSerProAsnAsnProHisPheLeuProSerSerSerGlyAlaGlnGlyGluGlyHisArgValSerSerProIleSerSerGlnValCysThrAlaGlnAsnSerGlyAlaHisAspGlyHisProProSerPheSerProHisSerSerSerLeuHisProProPheSerGlyAlaGlnAlaAspSerSerHisGlyAlaGlyGlyAsnProCysProLysSerProCysValGlnGlnLysMetAlaGlyLeuHisSerSerAspLysValGlyProLysPheSerIleProSerProThrPheSerLysSerSerSerAlaIleSerGluValThrGlnProProSerTyrGluAspAlaValLysGlnGlnMetThrArgSerGlnGlnMetAspGluLeuLeuAspValLeuIleGluSerGlyGluMetProAlaAspAlaArgGluAspHisSerCysLeuGlnLysValProLysIleProArgSerSerArgSerProThrAlaValLeuThrLysProSerAlaSerPheGluGlnAlaSerSerGlySerGlnIleProPheAspProTyrAlaThrAspSerAspGluHisLeuGluValLeuLeuAsnSerGlnSerProLeuGlyLysMetSerAspValThrLeuLeuLysIleGlySerGluGluProHisPheAspGlyIleMetAspGlyPheSerGlyLysAlaAlaGluAspLeuPheAsnAlaHisGluIleLeuProGlyProLeuSerProMetGlnThrGlnPheSerProSerSerValAspSerAsnGlyLeuGlnLeuSerPheThrGluSerProTrpGluThrMetGluTrpLeuAspLeuThrProProAsnSerThrProGlyPheSerAlaLeuThrThrSerSerProSerIlePheAsnIleAspPheLeuAspValThrAspLeuAsnLeuAsnSerSerMetAspLeuHisLeuGlnGlnTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825929530",
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016067",
      "geneNCBI_id": 93649,
      "geneSymbol": "MYOCD",
      "hgvs": [
        "NM_001146312.3:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139784.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_001139784.1:p.Arg115_Trp986delinsProGlyProLeuGluLeuValGluLysAsnIleLeuProValAspSerAlaValLysGluAlaIleLysGlyAsnGlnValSerPheSerLysSerThrAspAlaPheAlaPheGluGluAspSerSerSerAspGlyLeuSerProAspGlnThrArgSerGluAspProGlnAsnSerAlaGlySerProProAspAlaLysAlaSerAspThrProSerThrGlySerLeuGlyThrAsnGlnAspLeuAlaSerGlySerGluAsnAspArgAsnAspSerAlaSerGlnProSerHisGlnSerAspAlaGlyLysGlnGlyLeuGlyProProSerThrProIleAlaValHisAlaAlaValLysSerLysSerLeuGlyAspSerLysAsnArgHisLysLysProLysAspProLysProLysValLysLysLeuLysTyrHisGlnTyrIleProProAspGlnLysAlaGluLysSerProProProMetAspSerAlaTyrAlaArgLeuLeuGlnGlnGlnGlnLeuPheLeuGlnLeuGlnIleLeuSerGlnGlnGlnGlnGlnGlnGlnHisArgPheSerTyrLeuGlyMetHisGlnAlaGlnLeuLysGluProAsnGluGlnMetValArgAsnProAsnSerSerSerThrProLeuSerAsnThrProLeuSerProValLysAsnSerPheSerGlyGlnThrGlyValSerSerPheLysProGlyProLeuProProAsnLeuAspAspLeuLysValSerGluLeuArgGlnGlnLeuArgIleArgGlyLeuProValSerGlyThrLysThrAlaLeuMetAspArgLeuArgProPheGlnAspCysSerGlyAsnProValProAsnPheGlyAspIleThrThrValThrPheProValThrProAsnThrLeuProAsnTyrGlnSerSerSerSerThrSerAlaLeuSerAsnGlyPheTyrHisPheGlySerThrSerSerSerProProIleSerProAlaSerSerAspLeuSerValAlaGlySerLeuProAspThrPheAsnAspAlaSerProSerPheGlyLeuHisProSerProValHisValCysThrGluGluSerLeuMetSerSerLeuAsnGlyGlySerValProSerGluLeuAspGlyLeuAspSerGluLysAspLysMetLeuValGluLysGlnLysValIleAsnGluLeuThrTrpLysLeuGlnGlnGluGlnArgGlnValGluGluLeuArgMetGlnLeuGlnLysGlnLysArgAsnAsnCysSerGluLysLysProLeuProPheLeuAlaAlaSerIleLysGlnGluGluAlaValSerSerCysProPheAlaSerGlnValProValLysArgGlnSerSerSerSerGluCysHisProProAlaCysGluAlaAlaGlnLeuGlnProLeuGlyAsnAlaHisCysValGluSerSerAspGlnThrAsnValLeuSerSerThrPheLeuSerProGlnCysSerProGlnHisSerProLeuGlyAlaValLysSerProGlnHisIleSerLeuProProSerProAsnAsnProHisPheLeuProSerSerSerGlyAlaGlnGlyGluGlyHisArgValSerSerProIleSerSerGlnValCysThrAlaGlnAsnSerGlyAlaHisAspGlyHisProProSerPheSerProHisSerSerSerLeuHisProProPheSerGlyAlaGlnAlaAspSerSerHisGlyAlaGlyGlyAsnProCysProLysSerProCysValGlnGlnLysMetAlaGlyLeuHisSerSerAspLysValGlyProLysPheSerIleProSerProThrPheSerLysSerSerSerAlaIleSerGluValThrGlnProProSerTyrGluAspAlaValLysGlnGlnMetThrArgSerGlnGlnMetAspGluLeuLeuAspValLeuIleGluSerGlyGluMetProAlaAspAlaArgGluAspHisSerCysLeuGlnLysValProLysIleProArgSerSerArgSerProThrAlaValLeuThrLysProSerAlaSerPheGluGlnAlaSerSerGlySerGlnIleProPheAspProTyrAlaThrAspSerAspGluHisLeuGluValLeuLeuAsnSerGlnSerProLeuGlyLysMetSerAspValThrLeuLeuLysIleGlySerGluGluProHisPheAspGlyIleMetAspGlyPheSerGlyLysAlaAlaGluAspLeuPheAsnAlaHisGluIleLeuProGlyProLeuSerProMetGlnThrGlnPheSerProSerSerValAspSerAsnGlyLeuGlnLeuSerPheThrGluSerProTrpGluThrMetGluTrpLeuAspLeuThrProProAsnSerThrProGlyPheSerAlaLeuThrThrSerSerProSerIlePheAsnIleAspPheLeuAspValThrAspLeuAsnLeuAsnSerSerMetAspLeuHisLeuGlnGlnTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712914",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000425538.6:c.343C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001146312.3:c.343C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000401678.1:p.Arg115Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001139784.1:p.Arg115Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573075007",
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016067",
      "geneNCBI_id": 93649,
      "geneSymbol": "MYOCD",
      "hgvs": [
        "NM_001378306.1:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365235.1:p.Arg36Ter",
        "hgvsWellDefined": "NP_001365235.1:p.Arg36_Trp907delinsProGlyProLeuGluLeuValGluLysAsnIleLeuProValAspSerAlaValLysGluAlaIleLysGlyAsnGlnValSerPheSerLysSerThrAspAlaPheAlaPheGluGluAspSerSerSerAspGlyLeuSerProAspGlnThrArgSerGluAspProGlnAsnSerAlaGlySerProProAspAlaLysAlaSerAspThrProSerThrGlySerLeuGlyThrAsnGlnAspLeuAlaSerGlySerGluAsnAspArgAsnAspSerAlaSerGlnProSerHisGlnSerAspAlaGlyLysGlnGlyLeuGlyProProSerThrProIleAlaValHisAlaAlaValLysSerLysSerLeuGlyAspSerLysAsnArgHisLysLysProLysAspProLysProLysValLysLysLeuLysTyrHisGlnTyrIleProProAspGlnLysAlaGluLysSerProProProMetAspSerAlaTyrAlaArgLeuLeuGlnGlnGlnGlnLeuPheLeuGlnLeuGlnIleLeuSerGlnGlnGlnGlnGlnGlnGlnHisArgPheSerTyrLeuGlyMetHisGlnAlaGlnLeuLysGluProAsnGluGlnMetValArgAsnProAsnSerSerSerThrProLeuSerAsnThrProLeuSerProValLysAsnSerPheSerGlyGlnThrGlyValSerSerPheLysProGlyProLeuProProAsnLeuAspAspLeuLysValSerGluLeuArgGlnGlnLeuArgIleArgGlyLeuProValSerGlyThrLysThrAlaLeuMetAspArgLeuArgProPheGlnAspCysSerGlyAsnProValProAsnPheGlyAspIleThrThrValThrPheProValThrProAsnThrLeuProAsnTyrGlnSerSerSerSerThrSerAlaLeuSerAsnGlyPheTyrHisPheGlySerThrSerSerSerProProIleSerProAlaSerSerAspLeuSerValAlaGlySerLeuProAspThrPheAsnAspAlaSerProSerPheGlyLeuHisProSerProValHisValCysThrGluGluSerLeuMetSerSerLeuAsnGlyGlySerValProSerGluLeuAspGlyLeuAspSerGluLysAspLysMetLeuValGluLysGlnLysValIleAsnGluLeuThrTrpLysLeuGlnGlnGluGlnArgGlnValGluGluLeuArgMetGlnLeuGlnLysGlnLysArgAsnAsnCysSerGluLysLysProLeuProPheLeuAlaAlaSerIleLysGlnGluGluAlaValSerSerCysProPheAlaSerGlnValProValLysArgGlnSerSerSerSerGluCysHisProProAlaCysGluAlaAlaGlnLeuGlnProLeuGlyAsnAlaHisCysValGluSerSerAspGlnThrAsnValLeuSerSerThrPheLeuSerProGlnCysSerProGlnHisSerProLeuGlyAlaValLysSerProGlnHisIleSerLeuProProSerProAsnAsnProHisPheLeuProSerSerSerGlyAlaGlnGlyGluGlyHisArgValSerSerProIleSerSerGlnValCysThrAlaGlnAsnSerGlyAlaHisAspGlyHisProProSerPheSerProHisSerSerSerLeuHisProProPheSerGlyAlaGlnAlaAspSerSerHisGlyAlaGlyGlyAsnProCysProLysSerProCysValGlnGlnLysMetAlaGlyLeuHisSerSerAspLysValGlyProLysPheSerIleProSerProThrPheSerLysSerSerSerAlaIleSerGluValThrGlnProProSerTyrGluAspAlaValLysGlnGlnMetThrArgSerGlnGlnMetAspGluLeuLeuAspValLeuIleGluSerGlyGluMetProAlaAspAlaArgGluAspHisSerCysLeuGlnLysValProLysIleProArgSerSerArgSerProThrAlaValLeuThrLysProSerAlaSerPheGluGlnAlaSerSerGlySerGlnIleProPheAspProTyrAlaThrAspSerAspGluHisLeuGluValLeuLeuAsnSerGlnSerProLeuGlyLysMetSerAspValThrLeuLeuLysIleGlySerGluGluProHisPheAspGlyIleMetAspGlyPheSerGlyLysAlaAlaGluAspLeuPheAsnAlaHisGluIleLeuProGlyProLeuSerProMetGlnThrGlnPheSerProSerSerValAspSerAsnGlyLeuGlnLeuSerPheThrGluSerProTrpGluThrMetGluTrpLeuAspLeuThrProProAsnSerThrProGlyPheSerAlaLeuThrThrSerSerProSerIlePheAsnIleAspPheLeuAspValThrAspLeuAsnLeuAsnSerSerMetAspLeuHisLeuGlnGlnTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721621"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916055611",
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016067",
      "geneNCBI_id": 93649,
      "geneSymbol": "MYOCD",
      "hgvs": [
        "NM_153604.4:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_705832.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_705832.1:p.Arg115_Trp938delinsProGlyProLeuGluLeuValGluLysAsnIleLeuProValAspSerAlaValLysGluAlaIleLysGlyAsnGlnValSerPheSerLysSerThrAspAlaPheAlaPheGluGluAspSerSerSerAspGlyLeuSerProAspGlnThrArgSerGluAspProGlnAsnSerAlaGlySerProProAspAlaLysAlaSerAspThrProSerThrGlySerLeuGlyThrAsnGlnAspLeuAlaSerGlySerGluAsnAspArgAsnAspSerAlaSerGlnProSerHisGlnSerAspAlaGlyLysGlnGlyLeuGlyProProSerThrProIleAlaValHisAlaAlaValLysSerLysSerLeuGlyAspSerLysAsnArgHisLysLysProLysAspProLysProLysValLysLysLeuLysTyrHisGlnTyrIleProProAspGlnLysAlaGluLysSerProProProMetAspSerAlaTyrAlaArgLeuLeuGlnGlnGlnGlnLeuPheLeuGlnLeuGlnIleLeuSerGlnGlnGlnGlnGlnGlnGlnHisArgPheSerTyrLeuGlyMetHisGlnAlaGlnLeuLysGluProAsnGluGlnMetValArgAsnProAsnSerSerSerThrProLeuSerAsnThrProLeuSerProValLysAsnSerPheSerGlyGlnThrGlyValSerSerPheLysProGlyProLeuProProAsnLeuAspAspLeuLysValSerGluLeuArgGlnGlnLeuArgIleArgGlyLeuProValSerGlyThrLysThrAlaLeuMetAspArgLeuArgProPheGlnAspCysSerGlyAsnProValProAsnPheGlyAspIleThrThrValThrPheProValThrProAsnThrLeuProAsnTyrGlnSerSerSerSerThrSerAlaLeuSerAsnGlyPheTyrHisPheGlySerThrSerSerSerProProIleSerProAlaSerSerAspLeuSerValAlaGlySerLeuProAspThrPheAsnAspAlaSerProSerPheGlyLeuHisProSerProValHisValCysThrGluGluSerLeuMetSerSerLeuAsnGlyGlySerValProSerGluLeuAspGlyLeuAspSerGluLysAspLysMetLeuValGluLysGlnLysValIleAsnGluLeuThrTrpLysLeuGlnGlnGluGlnArgGlnValGluGluLeuArgMetGlnLeuGlnLysGlnLysArgAsnAsnCysSerGluLysLysProLeuProPheLeuAlaAlaSerIleLysGlnGluGluAlaValSerSerCysProPheAlaSerGlnValProValLysArgGlnSerSerSerSerGluCysHisProProAlaCysGluAlaAlaGlnLeuGlnProLeuGlyAsnAlaHisCysValGluSerSerAspGlnThrAsnValLeuSerSerThrPheLeuSerProGlnCysSerProGlnHisSerProLeuGlyAlaValLysSerProGlnHisIleSerLeuProProSerProAsnAsnProHisPheLeuProSerSerSerGlyAlaGlnGlyGluGlyHisArgValSerSerProIleSerSerGlnValCysThrAlaGlnMetAlaGlyLeuHisSerSerAspLysValGlyProLysPheSerIleProSerProThrPheSerLysSerSerSerAlaIleSerGluValThrGlnProProSerTyrGluAspAlaValLysGlnGlnMetThrArgSerGlnGlnMetAspGluLeuLeuAspValLeuIleGluSerGlyGluMetProAlaAspAlaArgGluAspHisSerCysLeuGlnLysValProLysIleProArgSerSerArgSerProThrAlaValLeuThrLysProSerAlaSerPheGluGlnAlaSerSerGlySerGlnIleProPheAspProTyrAlaThrAspSerAspGluHisLeuGluValLeuLeuAsnSerGlnSerProLeuGlyLysMetSerAspValThrLeuLeuLysIleGlySerGluGluProHisPheAspGlyIleMetAspGlyPheSerGlyLysAlaAlaGluAspLeuPheAsnAlaHisGluIleLeuProGlyProLeuSerProMetGlnThrGlnPheSerProSerSerValAspSerAsnGlyLeuGlnLeuSerPheThrGluSerProTrpGluThrMetGluTrpLeuAspLeuThrProProAsnSerThrProGlyPheSerAlaLeuThrThrSerSerProSerIlePheAsnIleAspPheLeuAspValThrAspLeuAsnLeuAsnSerSerMetAspLeuHisLeuGlnGlnTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729481"
    }
  ],
  "type": "nucleotide"
}