{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7534402",
  "communityStandardTitle": [
    "NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2189004",
        "active": true,
        "id": "COSM2189004"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2189005",
        "active": true,
        "id": "COSM2189005"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=569374[alleleid]",
        "alleleId": 569374,
        "preferredName": "NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/571323",
        "RCV": [
          "RCV000692442",
          "RCV000765211",
          "RCV002468006",
          "RCV003223668",
          "RCV002468005"
        ],
        "variationId": 571323
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-44876407-C-T",
        "id": "15-44876407-C-T",
        "variant": "15:44876407 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.44876407C>T?assembly=hg19",
        "id": "chr15:g.44876407C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.44584209C>T?assembly=hg38",
        "id": "chr15:g.44584209C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752401008",
        "rs": 752401008
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44876407-C-T?dataset=gnomad_r2_1",
        "id": "15-44876407-C-T",
        "variant": "15:44876407 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44584209-C-T?dataset=gnomad_r3",
        "id": "15-44584209-C-T",
        "variant": "15:44584209 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44584209-C-T?dataset=gnomad_r4",
        "id": "15-44584209-C-T",
        "variant": "15:44584209 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 44584209,
          "referenceAllele": "C",
          "start": 44584208
        }
      ],
      "hgvs": [
        "NC_000015.10:g.44584209C>T",
        "CM000677.2:g.44584209C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 44876407,
          "referenceAllele": "C",
          "start": 44876406
        }
      ],
      "hgvs": [
        "NC_000015.9:g.44876407C>T",
        "CM000677.1:g.44876407C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 42663699,
          "referenceAllele": "C",
          "start": 42663698
        }
      ],
      "hgvs": [
        "NC_000015.8:g.42663699C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 84470,
          "referenceAllele": "G",
          "start": 84469
        }
      ],
      "hgvs": [
        "NG_008885.1:g.84470G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001280"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5471,
          "referenceAllele": "G",
          "start": 5470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000559511.6:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453246.2:p.Arg1824Gln",
        "hgvsWellDefined": "ENSP00000453246.2:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1699,
          "referenceAllele": "G",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000561391.2:n.1699G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826078"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5358,
          "referenceAllele": "G",
          "start": 5357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682065.1:c.5327G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507025.1:p.Arg1776Gln",
        "hgvsWellDefined": "ENSP00000507025.1:p.Arg1776Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5425,
          "referenceAllele": "G",
          "start": 5424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682460.1:c.*1728G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508334.1:n.*1728G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5627,
          "referenceAllele": "G",
          "start": 5626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682495.1:c.*1963G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507166.1:n.*1963G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5301,
          "referenceAllele": "G",
          "start": 5300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682669.1:c.5270G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507782.1:p.Arg1757Gln",
        "hgvsWellDefined": "ENSP00000507782.1:p.Arg1757Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5312,
          "referenceAllele": "G",
          "start": 5311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683186.1:c.*2234G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507268.1:n.*2234G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5502,
          "referenceAllele": "G",
          "start": 5501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683496.1:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506968.1:p.Arg1824Gln",
        "hgvsWellDefined": "ENSP00000506968.1:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5486,
          "referenceAllele": "G",
          "start": 5485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683734.1:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508319.1:p.Arg1824Gln",
        "hgvsWellDefined": "ENSP00000508319.1:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4517,
          "referenceAllele": "G",
          "start": 4516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683753.1:n.4517G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5320,
          "referenceAllele": "G",
          "start": 5319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684038.1:c.*1891G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507141.1:n.*1891G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5502,
          "referenceAllele": "G",
          "start": 5501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684235.1:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508295.1:p.Arg1824Gln",
        "hgvsWellDefined": "ENSP00000508295.1:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5512,
          "referenceAllele": "G",
          "start": 5511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684676.1:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506948.1:p.Arg1824Gln",
        "hgvsWellDefined": "ENSP00000506948.1:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829627"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5486,
          "referenceAllele": "G",
          "start": 5485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000261866.12:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261866.7:p.Arg1824Gln",
        "hgvsWellDefined": "ENSP00000261866.7:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.5471G>A"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.5471G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Arg1824Gln"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Arg1824Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5488,
          "referenceAllele": "G",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000261866.11:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261866.7:p.Arg1824Gln",
        "hgvsWellDefined": "ENSP00000261866.7:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5471,
          "referenceAllele": "G",
          "start": 5470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000427534.6:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396110.2:p.Arg1824Gln",
        "hgvsWellDefined": "ENSP00000396110.2:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5499,
          "referenceAllele": "G",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000535302.6:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445278.2:p.Arg1824Gln",
        "hgvsWellDefined": "ENSP00000445278.2:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5502,
          "referenceAllele": "G",
          "start": 5501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000558319.5:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453599.1:p.Arg1824Gln",
        "hgvsWellDefined": "ENSP00000453599.1:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "G",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000559511.5:c.319G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 243,
          "referenceAllele": "G",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000559822.1:c.243G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825948220",
      "coordinates": [
        {
          "allele": "A",
          "end": 5502,
          "referenceAllele": "G",
          "start": 5501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.1:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Arg1824Gln",
        "hgvsWellDefined": "NP_001153699.1:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891855880",
      "coordinates": [
        {
          "allele": "A",
          "end": 5502,
          "referenceAllele": "G",
          "start": 5501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.3:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:p.Arg1824Gln",
        "hgvsWellDefined": "NP_079413.3:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5238,
          "referenceAllele": "G",
          "start": 5237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_005254695.3:c.5213G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254752.1:p.Arg1738Gln",
        "hgvsWellDefined": "XP_005254752.1:p.Arg1738Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5358,
          "referenceAllele": "G",
          "start": 5357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720700.1:c.5327G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720763.1:p.Arg1776Gln",
        "hgvsWellDefined": "XP_006720763.1:p.Arg1776Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5502,
          "referenceAllele": "G",
          "start": 5501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022634.1:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878123.1:p.Arg1824Gln",
        "hgvsWellDefined": "XP_016878123.1:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573547"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3311,
          "referenceAllele": "G",
          "start": 3310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022636.1:c.2348G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878125.1:p.Arg783Gln",
        "hgvsWellDefined": "XP_016878125.1:p.Arg783Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891855880",
      "coordinates": [
        {
          "allele": "A",
          "end": 5486,
          "referenceAllele": "G",
          "start": 5485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.4:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:p.Arg1824Gln",
        "hgvsWellDefined": "NP_079413.3:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.5471G>A"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.5471G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Arg1824Gln"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Arg1824Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825948220",
      "coordinates": [
        {
          "allele": "A",
          "end": 5486,
          "referenceAllele": "G",
          "start": 5485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.2:c.5471G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Arg1824Gln",
        "hgvsWellDefined": "NP_001153699.1:p.Arg1824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678139"
    }
  ],
  "type": "nucleotide"
}