{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1242497403",
  "communityStandardTitle": [
    "NM_014946.4(SPAST):c.1117G= (p.Ala373=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518880",
        "rs": 1057518880
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1679214464",
        "rs": 1679214464
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 32126966,
          "referenceAllele": "G",
          "start": 32126965
        }
      ],
      "hgvs": [
        "NC_000002.12:g.32126966G=",
        "CM000664.2:g.32126966G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 32352035,
          "referenceAllele": "G",
          "start": 32352034
        }
      ],
      "hgvs": [
        "NC_000002.11:g.32352035G=",
        "CM000664.1:g.32352035G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 32205539,
          "referenceAllele": "G",
          "start": 32205538
        }
      ],
      "hgvs": [
        "NC_000002.10:g.32205539G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 68356,
          "referenceAllele": "G",
          "start": 68355
        }
      ],
      "hgvs": [
        "NG_008730.1:g.68356G=",
        "LRG_714:g.68356G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001188"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1392,
          "referenceAllele": "G",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000704289.1:c.*777G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515816.1:n.*777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1393,
          "referenceAllele": "G",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000315285.9:c.1117G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320885.3:p.Ala373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745978",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000315285.9:c.1117G="
          },
          "RefSeq": {
            "hgvs": "NM_014946.4:c.1117G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320885.3:p.Ala373="
          },
          "RefSeq": {
            "hgvs": "NP_055761.2:p.Ala373="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000621856.2:c.1114G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482496.2:p.Ala372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 9596,
          "referenceAllele": "G",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 9597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000642281.1:c.983-9597G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1022,
          "referenceAllele": "G",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000642455.1:c.1018G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493827.1:p.Ala340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000642751.1:c.891G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000642999.1:c.859G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496589.1:p.Ala287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767033"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000643327.1:c.276G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000643334.1:c.697G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000644408.1:c.993G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767802"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000644954.1:c.763G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494312.1:p.Ala255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 469,
          "referenceAllele": "G",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000645159.1:n.469G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000645550.1:n.330G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000645671.1:c.567G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 464,
          "referenceAllele": "G",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000645730.1:c.464G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 763,
          "referenceAllele": "G",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000646082.1:c.763G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1242,
          "referenceAllele": "G",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000646571.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495015.1:p.Ala341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000647007.1:n.809G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "endIntronDirection": "-",
          "endIntronOffset": 1441,
          "referenceAllele": "G",
          "start": 673,
          "startIntronDirection": "-",
          "startIntronOffset": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000647133.1:c.674-1442G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1242,
          "referenceAllele": "G",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000315285.7:c.1117G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320885.3:p.Ala373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1242,
          "referenceAllele": "G",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000345662.5:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340817.1:p.Ala341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1338,
          "referenceAllele": "G",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000615843.4:c.1117G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480893.1:p.Ala373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000621856.1:c.859G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482496.1:p.Ala287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829789408",
      "coordinates": [
        {
          "allele": "G",
          "end": 1338,
          "referenceAllele": "G",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_014946.3:c.1117G=",
        "LRG_714t1:c.1117G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055761.2:p.Ala373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830440892",
      "coordinates": [
        {
          "allele": "G",
          "end": 1242,
          "referenceAllele": "G",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_199436.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_955468.1:p.Ala341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1394,
          "referenceAllele": "G",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "XM_005264516.3:c.1114G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264573.1:p.Ala372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064266"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1397,
          "referenceAllele": "G",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "XM_011533067.1:c.1117G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531369.1:p.Ala373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100093"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828118989",
      "coordinates": [
        {
          "allele": "G",
          "end": 1335,
          "referenceAllele": "G",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_001363823.1:c.1114G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350752.1:p.Ala372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828125161",
      "coordinates": [
        {
          "allele": "G",
          "end": 1239,
          "referenceAllele": "G",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_001363875.1:c.1018G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350804.1:p.Ala340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523620"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1114,
          "referenceAllele": "G",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "XM_005264516.5:c.1114G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264573.1:p.Ala372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1398,
          "referenceAllele": "G",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "XM_011533067.2:c.1117G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531369.1:p.Ala373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1302,
          "referenceAllele": "G",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "XM_017004778.2:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860267.1:p.Ala341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828118989",
      "coordinates": [
        {
          "allele": "G",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_001363823.2:c.1114G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350752.1:p.Ala372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828125161",
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "referenceAllele": "G",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_001363875.2:c.1018G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350804.1:p.Ala340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720806"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828733312",
      "coordinates": [
        {
          "allele": "G",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_001377959.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364888.1:p.Ala341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829789408",
      "coordinates": [
        {
          "allele": "G",
          "end": 1393,
          "referenceAllele": "G",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_014946.4:c.1117G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055761.2:p.Ala373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728018",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000315285.9:c.1117G="
          },
          "RefSeq": {
            "hgvs": "NM_014946.4:c.1117G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320885.3:p.Ala373="
          },
          "RefSeq": {
            "hgvs": "NP_055761.2:p.Ala373="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830440892",
      "coordinates": [
        {
          "allele": "G",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_199436.2:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_955468.1:p.Ala341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729993"
    }
  ],
  "type": "nucleotide"
}