{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA128040",
  "communityStandardTitle": [
    "NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33351[alleleid]",
        "alleleId": 33351,
        "preferredName": "NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18312",
        "RCV": [
          "RCV000019976",
          "RCV000019974",
          "RCV000019975",
          "RCV002482891"
        ],
        "variationId": 18312
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.66560624C>T?assembly=hg38",
        "id": "chr11:g.66560624C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1815739",
        "rs": 1815739
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-66560624-C-T?dataset=gnomad_r3",
        "id": "11-66560624-C-T",
        "variant": "11:66560624 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-66560624-C-T?dataset=gnomad_r4",
        "id": "11-66560624-C-T",
        "variant": "11:66560624 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 66560624,
          "referenceAllele": "C",
          "start": 66560623
        }
      ],
      "hgvs": [
        "NC_000011.10:g.66560624C>T",
        "CM000673.2:g.66560624C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18705,
          "referenceAllele": "C",
          "start": 18704
        }
      ],
      "hgvs": [
        "NG_013304.2:g.18705C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002779"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1764,
          "referenceAllele": "C",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000165",
      "geneNCBI_id": 89,
      "geneSymbol": "ACTN3",
      "hgvs": [
        "ENST00000513398.2:c.1729C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426797.1:p.Arg577Ter",
        "hgvsWellDefined": "ENSP00000426797.1:p.Arg577_Leu901delinsGluArgGlyAlaIleMetGlyIleGlnGlyGluIleGlnLysIleCysGlnThrTyrGlyLeuArgProCysSerThrAsnProTyrIleThrLeuSerProGlnAspIleAsnThrLysTrpAspMetValArgLysLeuValProSerCysAspGlnThrLeuGlnGluGluLeuAlaArgGlnGlnValAsnGluArgLeuArgArgGlnPheAlaAlaGlnAlaAsnAlaIleGlyProTrpIleGlnAlaLysValGluGluValGlyArgLeuAlaAlaGlyLeuAlaGlySerLeuGluGluGlnMetAlaGlyLeuArgGlnGlnGluGlnAsnIleIleAsnTyrLysThrAsnIleAspArgLeuGluGlyAspHisGlnLeuLeuGlnGluSerLeuValPheAspAsnLysHisThrValTyrSerMetGluHisIleArgValGlyTrpGluGlnLeuLeuThrSerIleAlaArgThrIleAsnGluValGluAsnGlnValLeuThrArgAspAlaLysGlyLeuSerGlnGluGlnLeuAsnGluPheArgAlaSerPheAsnHisPheAspArgLysGlnAsnGlyMetMetGluProAspAspPheArgAlaCysLeuIleSerMetGlyTyrAspLeuGlyGluValGluPheAlaArgIleMetThrMetValAspProAsnAlaAlaGlyValValThrPheGlnAlaPheIleAspPheMetThrArgGluThrAlaGluThrAspThrThrGluGlnValValAlaSerPheLysIleLeuAlaGlyAspLysAsnTyrIleThrProGluGluLeuArgArgGluLeuProAlaLysGlnAlaGluTyrCysIleArgArgMetValProTyrLysGlySerGlyAlaProAlaGlyAlaLeuAspTyrValAlaPheSerSerAlaLeuTyrGlyGluSerAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000513398.2:c.1729C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001104.4:c.1729C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426797.1:p.Arg577Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001095.2:p.Arg577Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1974,
          "referenceAllele": "C",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000165",
      "geneNCBI_id": 89,
      "geneSymbol": "ACTN3",
      "hgvs": [
        "ENST00000502692.5:c.1858C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422007.1:p.Arg620Ter",
        "hgvsWellDefined": "ENSP00000422007.1:p.Arg620_Leu944delinsGluArgGlyAlaIleMetGlyIleGlnGlyGluIleGlnLysIleCysGlnThrTyrGlyLeuArgProCysSerThrAsnProTyrIleThrLeuSerProGlnAspIleAsnThrLysTrpAspMetValArgLysLeuValProSerCysAspGlnThrLeuGlnGluGluLeuAlaArgGlnGlnValAsnGluArgLeuArgArgGlnPheAlaAlaGlnAlaAsnAlaIleGlyProTrpIleGlnAlaLysValGluGluValGlyArgLeuAlaAlaGlyLeuAlaGlySerLeuGluGluGlnMetAlaGlyLeuArgGlnGlnGluGlnAsnIleIleAsnTyrLysThrAsnIleAspArgLeuGluGlyAspHisGlnLeuLeuGlnGluSerLeuValPheAspAsnLysHisThrValTyrSerMetGluHisIleArgValGlyTrpGluGlnLeuLeuThrSerIleAlaArgThrIleAsnGluValGluAsnGlnValLeuThrArgAspAlaLysGlyLeuSerGlnGluGlnLeuAsnGluPheArgAlaSerPheAsnHisPheAspArgLysGlnAsnGlyMetMetGluProAspAspPheArgAlaCysLeuIleSerMetGlyTyrAspLeuGlyGluValGluPheAlaArgIleMetThrMetValAspProAsnAlaAlaGlyValValThrPheGlnAlaPheIleAspPheMetThrArgGluThrAlaGluThrAspThrThrGluGlnValValAlaSerPheLysIleLeuAlaGlyAspLysAsnTyrIleThrProGluGluLeuArgArgGluLeuProAlaLysGlnAlaGluTyrCysIleArgArgMetValProTyrLysGlySerGlyAlaProAlaGlyAlaLeuAspTyrValAlaPheSerSerAlaLeuTyrGlyGluSerAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1826,
          "referenceAllele": "C",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000165",
      "geneNCBI_id": 89,
      "geneSymbol": "ACTN3",
      "hgvs": [
        "ENST00000513398.1:c.1729C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426797.1:p.Arg577Ter",
        "hgvsWellDefined": "ENSP00000426797.1:p.Arg577_Leu901delinsGluArgGlyAlaIleMetGlyIleGlnGlyGluIleGlnLysIleCysGlnThrTyrGlyLeuArgProCysSerThrAsnProTyrIleThrLeuSerProGlnAspIleAsnThrLysTrpAspMetValArgLysLeuValProSerCysAspGlnThrLeuGlnGluGluLeuAlaArgGlnGlnValAsnGluArgLeuArgArgGlnPheAlaAlaGlnAlaAsnAlaIleGlyProTrpIleGlnAlaLysValGluGluValGlyArgLeuAlaAlaGlyLeuAlaGlySerLeuGluGluGlnMetAlaGlyLeuArgGlnGlnGluGlnAsnIleIleAsnTyrLysThrAsnIleAspArgLeuGluGlyAspHisGlnLeuLeuGlnGluSerLeuValPheAspAsnLysHisThrValTyrSerMetGluHisIleArgValGlyTrpGluGlnLeuLeuThrSerIleAlaArgThrIleAsnGluValGluAsnGlnValLeuThrArgAspAlaLysGlyLeuSerGlnGluGlnLeuAsnGluPheArgAlaSerPheAsnHisPheAspArgLysGlnAsnGlyMetMetGluProAspAspPheArgAlaCysLeuIleSerMetGlyTyrAspLeuGlyGluValGluPheAlaArgIleMetThrMetValAspProAsnAlaAlaGlyValValThrPheGlnAlaPheIleAspPheMetThrArgGluThrAlaGluThrAspThrThrGluGlnValValAlaSerPheLysIleLeuAlaGlyAspLysAsnTyrIleThrProGluGluLeuArgArgGluLeuProAlaLysGlnAlaGluTyrCysIleArgArgMetValProTyrLysGlySerGlyAlaProAlaGlyAlaLeuAspTyrValAlaPheSerSerAlaLeuTyrGlyGluSerAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128041",
      "coordinates": [
        {
          "allele": "T",
          "end": 1826,
          "referenceAllele": "C",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000165",
      "geneNCBI_id": 89,
      "geneSymbol": "ACTN3",
      "hgvs": [
        "NM_001104.3:c.1729C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001095.2:p.Arg577Ter",
        "hgvsWellDefined": "NP_001095.2:p.Arg577_Leu901delinsGluArgGlyAlaIleMetGlyIleGlnGlyGluIleGlnLysIleCysGlnThrTyrGlyLeuArgProCysSerThrAsnProTyrIleThrLeuSerProGlnAspIleAsnThrLysTrpAspMetValArgLysLeuValProSerCysAspGlnThrLeuGlnGluGluLeuAlaArgGlnGlnValAsnGluArgLeuArgArgGlnPheAlaAlaGlnAlaAsnAlaIleGlyProTrpIleGlnAlaLysValGluGluValGlyArgLeuAlaAlaGlyLeuAlaGlySerLeuGluGluGlnMetAlaGlyLeuArgGlnGlnGluGlnAsnIleIleAsnTyrLysThrAsnIleAspArgLeuGluGlyAspHisGlnLeuLeuGlnGluSerLeuValPheAspAsnLysHisThrValTyrSerMetGluHisIleArgValGlyTrpGluGlnLeuLeuThrSerIleAlaArgThrIleAsnGluValGluAsnGlnValLeuThrArgAspAlaLysGlyLeuSerGlnGluGlnLeuAsnGluPheArgAlaSerPheAsnHisPheAspArgLysGlnAsnGlyMetMetGluProAspAspPheArgAlaCysLeuIleSerMetGlyTyrAspLeuGlyGluValGluPheAlaArgIleMetThrMetValAspProAsnAlaAlaGlyValValThrPheGlnAlaPheIleAspPheMetThrArgGluThrAlaGluThrAspThrThrGluGlnValValAlaSerPheLysIleLeuAlaGlyAspLysAsnTyrIleThrProGluGluLeuArgArgGluLeuProAlaLysGlnAlaGluTyrCysIleArgArgMetValProTyrLysGlySerGlyAlaProAlaGlyAlaLeuAspTyrValAlaPheSerSerAlaLeuTyrGlyGluSerAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915984807",
      "coordinates": [
        {
          "allele": "T",
          "end": 1974,
          "referenceAllele": "C",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000165",
      "geneNCBI_id": 89,
      "geneSymbol": "ACTN3",
      "hgvs": [
        "NM_001258371.2:c.1858C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245300.2:p.Arg620Ter",
        "hgvsWellDefined": "NP_001245300.2:p.Arg620_Leu944delinsGluArgGlyAlaIleMetGlyIleGlnGlyGluIleGlnLysIleCysGlnThrTyrGlyLeuArgProCysSerThrAsnProTyrIleThrLeuSerProGlnAspIleAsnThrLysTrpAspMetValArgLysLeuValProSerCysAspGlnThrLeuGlnGluGluLeuAlaArgGlnGlnValAsnGluArgLeuArgArgGlnPheAlaAlaGlnAlaAsnAlaIleGlyProTrpIleGlnAlaLysValGluGluValGlyArgLeuAlaAlaGlyLeuAlaGlySerLeuGluGluGlnMetAlaGlyLeuArgGlnGlnGluGlnAsnIleIleAsnTyrLysThrAsnIleAspArgLeuGluGlyAspHisGlnLeuLeuGlnGluSerLeuValPheAspAsnLysHisThrValTyrSerMetGluHisIleArgValGlyTrpGluGlnLeuLeuThrSerIleAlaArgThrIleAsnGluValGluAsnGlnValLeuThrArgAspAlaLysGlyLeuSerGlnGluGlnLeuAsnGluPheArgAlaSerPheAsnHisPheAspArgLysGlnAsnGlyMetMetGluProAspAspPheArgAlaCysLeuIleSerMetGlyTyrAspLeuGlyGluValGluPheAlaArgIleMetThrMetValAspProAsnAlaAlaGlyValValThrPheGlnAlaPheIleAspPheMetThrArgGluThrAlaGluThrAspThrThrGluGlnValValAlaSerPheLysIleLeuAlaGlyAspLysAsnTyrIleThrProGluGluLeuArgArgGluLeuProAlaLysGlnAlaGluTyrCysIleArgArgMetValProTyrLysGlySerGlyAlaProAlaGlyAlaLeuAspTyrValAlaPheSerSerAlaLeuTyrGlyGluSerAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128041",
      "coordinates": [
        {
          "allele": "T",
          "end": 1764,
          "referenceAllele": "C",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000165",
      "geneNCBI_id": 89,
      "geneSymbol": "ACTN3",
      "hgvs": [
        "NM_001104.4:c.1729C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001095.2:p.Arg577Ter",
        "hgvsWellDefined": "NP_001095.2:p.Arg577_Leu901delinsGluArgGlyAlaIleMetGlyIleGlnGlyGluIleGlnLysIleCysGlnThrTyrGlyLeuArgProCysSerThrAsnProTyrIleThrLeuSerProGlnAspIleAsnThrLysTrpAspMetValArgLysLeuValProSerCysAspGlnThrLeuGlnGluGluLeuAlaArgGlnGlnValAsnGluArgLeuArgArgGlnPheAlaAlaGlnAlaAsnAlaIleGlyProTrpIleGlnAlaLysValGluGluValGlyArgLeuAlaAlaGlyLeuAlaGlySerLeuGluGluGlnMetAlaGlyLeuArgGlnGlnGluGlnAsnIleIleAsnTyrLysThrAsnIleAspArgLeuGluGlyAspHisGlnLeuLeuGlnGluSerLeuValPheAspAsnLysHisThrValTyrSerMetGluHisIleArgValGlyTrpGluGlnLeuLeuThrSerIleAlaArgThrIleAsnGluValGluAsnGlnValLeuThrArgAspAlaLysGlyLeuSerGlnGluGlnLeuAsnGluPheArgAlaSerPheAsnHisPheAspArgLysGlnAsnGlyMetMetGluProAspAspPheArgAlaCysLeuIleSerMetGlyTyrAspLeuGlyGluValGluPheAlaArgIleMetThrMetValAspProAsnAlaAlaGlyValValThrPheGlnAlaPheIleAspPheMetThrArgGluThrAlaGluThrAspThrThrGluGlnValValAlaSerPheLysIleLeuAlaGlyAspLysAsnTyrIleThrProGluGluLeuArgArgGluLeuProAlaLysGlnAlaGluTyrCysIleArgArgMetValProTyrLysGlySerGlyAlaProAlaGlyAlaLeuAspTyrValAlaPheSerSerAlaLeuTyrGlyGluSerAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663463",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000513398.2:c.1729C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001104.4:c.1729C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426797.1:p.Arg577Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001095.2:p.Arg577Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915984807",
      "coordinates": [
        {
          "allele": "T",
          "end": 1974,
          "referenceAllele": "C",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000165",
      "geneNCBI_id": 89,
      "geneSymbol": "ACTN3",
      "hgvs": [
        "NM_001258371.3:c.1858C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245300.2:p.Arg620Ter",
        "hgvsWellDefined": "NP_001245300.2:p.Arg620_Leu944delinsGluArgGlyAlaIleMetGlyIleGlnGlyGluIleGlnLysIleCysGlnThrTyrGlyLeuArgProCysSerThrAsnProTyrIleThrLeuSerProGlnAspIleAsnThrLysTrpAspMetValArgLysLeuValProSerCysAspGlnThrLeuGlnGluGluLeuAlaArgGlnGlnValAsnGluArgLeuArgArgGlnPheAlaAlaGlnAlaAsnAlaIleGlyProTrpIleGlnAlaLysValGluGluValGlyArgLeuAlaAlaGlyLeuAlaGlySerLeuGluGluGlnMetAlaGlyLeuArgGlnGlnGluGlnAsnIleIleAsnTyrLysThrAsnIleAspArgLeuGluGlyAspHisGlnLeuLeuGlnGluSerLeuValPheAspAsnLysHisThrValTyrSerMetGluHisIleArgValGlyTrpGluGlnLeuLeuThrSerIleAlaArgThrIleAsnGluValGluAsnGlnValLeuThrArgAspAlaLysGlyLeuSerGlnGluGlnLeuAsnGluPheArgAlaSerPheAsnHisPheAspArgLysGlnAsnGlyMetMetGluProAspAspPheArgAlaCysLeuIleSerMetGlyTyrAspLeuGlyGluValGluPheAlaArgIleMetThrMetValAspProAsnAlaAlaGlyValValThrPheGlnAlaPheIleAspPheMetThrArgGluThrAlaGluThrAspThrThrGluGlnValValAlaSerPheLysIleLeuAlaGlyAspLysAsnTyrIleThrProGluGluLeuArgArgGluLeuProAlaLysGlnAlaGluTyrCysIleArgArgMetValProTyrLysGlySerGlyAlaProAlaGlyAlaLeuAspTyrValAlaPheSerSerAlaLeuTyrGlyGluSerAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714949"
    }
  ],
  "type": "nucleotide"
}