{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349575",
  "communityStandardTitle": [
    "NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4729588",
        "active": true,
        "id": "COSM4729588"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=222539[alleleid]",
        "alleleId": 222539,
        "preferredName": "NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/220101",
        "RCV": [
          "RCV000205405",
          "RCV000585273"
        ],
        "variationId": 220101
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-89620213-G-A",
        "id": "16-89620213-G-A",
        "variant": "16:89620213 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89620213G>A?assembly=hg19",
        "id": "chr16:g.89620213G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89553805G>A?assembly=hg38",
        "id": "chr16:g.89553805G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769602042",
        "rs": 769602042
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89620213-G-A?dataset=gnomad_r2_1",
        "id": "16-89620213-G-A",
        "variant": "16:89620213 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89553805-G-A?dataset=gnomad_r3",
        "id": "16-89553805-G-A",
        "variant": "16:89553805 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89553805-G-A?dataset=gnomad_r4",
        "id": "16-89553805-G-A",
        "variant": "16:89553805 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89553805,
          "referenceAllele": "G",
          "start": 89553804
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89553805G>A",
        "CM000678.2:g.89553805G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89620213,
          "referenceAllele": "G",
          "start": 89620212
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89620213G>A",
        "CM000678.1:g.89620213G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 88147714,
          "referenceAllele": "G",
          "start": 88147713
        }
      ],
      "hgvs": [
        "NC_000016.8:g.88147714G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50409,
          "referenceAllele": "G",
          "start": 50408
        }
      ],
      "hgvs": [
        "NG_008082.1:g.50409G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000827"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1935,
          "referenceAllele": "G",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000268704.7:c.1927G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268704.3:p.Asp643Asn",
        "hgvsWellDefined": "ENSP00000268704.3:p.Asp643Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2620,
          "referenceAllele": "G",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000561702.6:n.2620G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 989,
          "referenceAllele": "G",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000566682.2:c.989G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461979.2:p.Arg330Gln",
        "hgvsWellDefined": "ENSP00000461979.2:p.Arg330Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 631,
          "referenceAllele": "G",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000569720.2:n.631G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2221,
          "referenceAllele": "G",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000569820.6:c.2221G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2011,
          "referenceAllele": "G",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000642226.1:n.2011G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3366,
          "referenceAllele": "G",
          "start": 3365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000642334.1:c.3366G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000642814.1:n.1363G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1671,
          "referenceAllele": "G",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000642984.1:n.1671G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2654,
          "referenceAllele": "G",
          "start": 2653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000643105.1:c.2654G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1362,
          "referenceAllele": "G",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000643350.1:n.1362G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2373,
          "referenceAllele": "G",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000643409.1:n.2373G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1765,
          "referenceAllele": "G",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000643496.1:n.1765G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1888,
          "referenceAllele": "G",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000643649.1:c.1837G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494806.1:p.Asp613Asn",
        "hgvsWellDefined": "ENSP00000494806.1:p.Asp613Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2754,
          "referenceAllele": "G",
          "start": 2753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000643668.1:c.*2242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494903.1:n.*2242G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1788,
          "referenceAllele": "G",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000643724.1:c.*996G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496335.1:n.*996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2847,
          "referenceAllele": "G",
          "start": 2846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000643954.1:c.2847G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2708,
          "referenceAllele": "G",
          "start": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000644171.1:n.2708G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2065,
          "referenceAllele": "G",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000644210.1:c.*520G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495675.1:n.*520G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1965,
          "referenceAllele": "G",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000644225.1:n.1965G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2632,
          "referenceAllele": "G",
          "start": 2631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000644281.1:n.2632G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 601,
          "referenceAllele": "G",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000644464.1:n.601G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3161,
          "referenceAllele": "G",
          "start": 3160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000644498.1:c.*1767G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496244.1:n.*1767G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1605,
          "referenceAllele": "G",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000644671.1:c.1605G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1136,
          "referenceAllele": "G",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000644751.1:c.1136G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767976"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1918,
          "referenceAllele": "G",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000644781.1:c.1903G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495473.1:p.Asp635Asn",
        "hgvsWellDefined": "ENSP00000495473.1:p.Asp635Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3194,
          "referenceAllele": "G",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000644901.1:c.*2342G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493797.1:n.*2342G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2273,
          "referenceAllele": "G",
          "start": 2272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000645042.1:c.*722G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493908.1:n.*722G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1963,
          "referenceAllele": "G",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000645063.1:c.1948G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493590.1:p.Asp650Asn",
        "hgvsWellDefined": "ENSP00000493590.1:p.Asp650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2708,
          "referenceAllele": "G",
          "start": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000645354.1:c.2708G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2289,
          "referenceAllele": "G",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000645392.1:n.2289G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000645742.1:n.582G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1963,
          "referenceAllele": "G",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000645818.2:c.1948G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495795.2:p.Asp650Asn",
        "hgvsWellDefined": "ENSP00000495795.2:p.Asp650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768558",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645818.2:c.1948G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003119.4:c.1948G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495795.2:p.Asp650Asn"
          },
          "RefSeq": {
            "hgvs": "NP_003110.1:p.Asp650Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1793,
          "referenceAllele": "G",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000645842.1:n.1793G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000645886.1:c.1453G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1507,
          "referenceAllele": "G",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000645897.1:c.1486G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495293.1:p.Asp496Asn",
        "hgvsWellDefined": "ENSP00000495293.1:p.Asp496Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1813,
          "referenceAllele": "G",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000645952.1:n.1813G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3066,
          "referenceAllele": "G",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000645977.1:n.3066G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1706,
          "referenceAllele": "G",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000646005.1:n.1706G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2306,
          "referenceAllele": "G",
          "start": 2305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000646263.1:c.*821G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494119.1:n.*821G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2004,
          "referenceAllele": "G",
          "start": 2003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000646303.1:c.1816G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494160.1:p.Asp606Asn",
        "hgvsWellDefined": "ENSP00000494160.1:p.Asp606Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000646399.1:c.2842G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 806,
          "referenceAllele": "G",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000646445.1:c.806G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2122,
          "referenceAllele": "G",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000646531.1:c.*571G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495185.1:n.*571G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1471,
          "referenceAllele": "G",
          "start": 1470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000646589.1:c.*1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494739.1:n.*1076G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000646716.1:c.1000G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495593.1:p.Asp334Asn",
        "hgvsWellDefined": "ENSP00000495593.1:p.Asp334Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2165,
          "referenceAllele": "G",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000646826.1:c.*621G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495123.1:n.*621G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3284,
          "referenceAllele": "G",
          "start": 3283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000646930.1:c.*1877G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495219.1:n.*1877G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000647032.1:c.1563G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769200"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2235,
          "referenceAllele": "G",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000647079.1:c.1540G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495967.1:p.Asp514Asn",
        "hgvsWellDefined": "ENSP00000495967.1:p.Asp514Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1905,
          "referenceAllele": "G",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000647123.1:n.1905G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1586,
          "referenceAllele": "G",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000647227.1:c.1586G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2598,
          "referenceAllele": "G",
          "start": 2597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000647302.1:n.2598G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "referenceAllele": "G",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000647476.1:n.835G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1692,
          "referenceAllele": "G",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000647491.1:n.1692G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1963,
          "referenceAllele": "G",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000268704.6:c.1948G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268704.2:p.Asp650Asn",
        "hgvsWellDefined": "ENSP00000268704.2:p.Asp650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000561702.5:n.933G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376290"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000561911.5:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457387.1:p.Arg183Gln",
        "hgvsWellDefined": "ENSP00000457387.1:p.Arg183Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 84,
          "referenceAllele": "G",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000566682.1:c.84G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 139,
          "referenceAllele": "G",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000569720.1:n.139G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1190,
          "referenceAllele": "G",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000569820.5:c.1190G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2308,
          "referenceAllele": "G",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "ENST00000620811.4:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478030.1:p.Thr237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404993"
    },
    {
      "@id": "http://reg.genome.network/allele/PA349576",
      "coordinates": [
        {
          "allele": "A",
          "end": 1978,
          "referenceAllele": "G",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "NM_003119.3:c.1948G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003110.1:p.Asp650Asn",
        "hgvsWellDefined": "NP_003110.1:p.Asp650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1985,
          "referenceAllele": "G",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "XM_006721264.2:c.1948G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721327.1:p.Asp650Asn",
        "hgvsWellDefined": "XP_006721327.1:p.Asp650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074017"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828121186",
      "coordinates": [
        {
          "allele": "A",
          "end": 1978,
          "referenceAllele": "G",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "NM_001363850.1:c.1948G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350779.1:p.Asp650Asn",
        "hgvsWellDefined": "NP_001350779.1:p.Asp650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523600"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1987,
          "referenceAllele": "G",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "XM_006721264.4:c.1948G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721327.1:p.Asp650Asn",
        "hgvsWellDefined": "XP_006721327.1:p.Asp650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2297,
          "referenceAllele": "G",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "XR_001751971.2:n.2297G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3584,
          "referenceAllele": "G",
          "start": 3583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "XR_001751972.2:n.3584G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA349576",
      "coordinates": [
        {
          "allele": "A",
          "end": 1963,
          "referenceAllele": "G",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "NM_003119.4:c.1948G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003110.1:p.Asp650Asn",
        "hgvsWellDefined": "NP_003110.1:p.Asp650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695736",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645818.2:c.1948G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003119.4:c.1948G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495795.2:p.Asp650Asn"
          },
          "RefSeq": {
            "hgvs": "NP_003110.1:p.Asp650Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}