{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7534422",
  "communityStandardTitle": [
    "NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360970[alleleid]",
        "alleleId": 360970,
        "preferredName": "NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374112",
        "RCV": [
          "RCV000801301",
          "RCV000414944",
          "RCV001268887",
          "RCV001848737",
          "RCV003483611",
          "RCV003105892",
          "RCV003168606"
        ],
        "variationId": 374112
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-44876497-A-G",
        "id": "15-44876497-A-G",
        "variant": "15:44876497 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.44876497A>G?assembly=hg19",
        "id": "chr15:g.44876497A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.44584299A>G?assembly=hg38",
        "id": "chr15:g.44584299A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201689565",
        "rs": 201689565
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44876497-A-G?dataset=gnomad_r2_1",
        "id": "15-44876497-A-G",
        "variant": "15:44876497 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44584299-A-G?dataset=gnomad_r3",
        "id": "15-44584299-A-G",
        "variant": "15:44584299 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44584299-A-G?dataset=gnomad_r4",
        "id": "15-44584299-A-G",
        "variant": "15:44584299 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 44584299,
          "referenceAllele": "A",
          "start": 44584298
        }
      ],
      "hgvs": [
        "NC_000015.10:g.44584299A>G",
        "CM000677.2:g.44584299A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 44876497,
          "referenceAllele": "A",
          "start": 44876496
        }
      ],
      "hgvs": [
        "NC_000015.9:g.44876497A>G",
        "CM000677.1:g.44876497A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 42663789,
          "referenceAllele": "A",
          "start": 42663788
        }
      ],
      "hgvs": [
        "NC_000015.8:g.42663789A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 84380,
          "referenceAllele": "T",
          "start": 84379
        }
      ],
      "hgvs": [
        "NG_008885.1:g.84380T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001280"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5381,
          "referenceAllele": "T",
          "start": 5380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000559511.6:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453246.2:p.Leu1794Pro",
        "hgvsWellDefined": "ENSP00000453246.2:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1609,
          "referenceAllele": "T",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000561391.2:n.1609T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5268,
          "referenceAllele": "T",
          "start": 5267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682065.1:c.5237T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507025.1:p.Leu1746Pro",
        "hgvsWellDefined": "ENSP00000507025.1:p.Leu1746Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5335,
          "referenceAllele": "T",
          "start": 5334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682460.1:c.*1638T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508334.1:n.*1638T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827450"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5537,
          "referenceAllele": "T",
          "start": 5536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682495.1:c.*1873T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507166.1:n.*1873T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5211,
          "referenceAllele": "T",
          "start": 5210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682669.1:c.5180T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507782.1:p.Leu1727Pro",
        "hgvsWellDefined": "ENSP00000507782.1:p.Leu1727Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5222,
          "referenceAllele": "T",
          "start": 5221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683186.1:c.*2144T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507268.1:n.*2144T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5412,
          "referenceAllele": "T",
          "start": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683496.1:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506968.1:p.Leu1794Pro",
        "hgvsWellDefined": "ENSP00000506968.1:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "referenceAllele": "T",
          "start": 5395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683734.1:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508319.1:p.Leu1794Pro",
        "hgvsWellDefined": "ENSP00000508319.1:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4427,
          "referenceAllele": "T",
          "start": 4426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683753.1:n.4427T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5230,
          "referenceAllele": "T",
          "start": 5229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684038.1:c.*1801T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507141.1:n.*1801T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5412,
          "referenceAllele": "T",
          "start": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684235.1:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508295.1:p.Leu1794Pro",
        "hgvsWellDefined": "ENSP00000508295.1:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5422,
          "referenceAllele": "T",
          "start": 5421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684676.1:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506948.1:p.Leu1794Pro",
        "hgvsWellDefined": "ENSP00000506948.1:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "referenceAllele": "T",
          "start": 5395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000261866.12:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261866.7:p.Leu1794Pro",
        "hgvsWellDefined": "ENSP00000261866.7:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.5381T>C"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.5381T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Leu1794Pro"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Leu1794Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5398,
          "referenceAllele": "T",
          "start": 5397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000261866.11:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261866.7:p.Leu1794Pro",
        "hgvsWellDefined": "ENSP00000261866.7:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5381,
          "referenceAllele": "T",
          "start": 5380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000427534.6:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396110.2:p.Leu1794Pro",
        "hgvsWellDefined": "ENSP00000396110.2:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5409,
          "referenceAllele": "T",
          "start": 5408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000535302.6:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445278.2:p.Leu1794Pro",
        "hgvsWellDefined": "ENSP00000445278.2:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5412,
          "referenceAllele": "T",
          "start": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000558319.5:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453599.1:p.Leu1794Pro",
        "hgvsWellDefined": "ENSP00000453599.1:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 818,
          "referenceAllele": "T",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000558790.5:n.818T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 229,
          "referenceAllele": "T",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000559511.5:c.229T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374643"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 153,
          "referenceAllele": "T",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000559822.1:c.153T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825948191",
      "coordinates": [
        {
          "allele": "C",
          "end": 5412,
          "referenceAllele": "T",
          "start": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.1:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Leu1794Pro",
        "hgvsWellDefined": "NP_001153699.1:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645408201",
      "coordinates": [
        {
          "allele": "C",
          "end": 5412,
          "referenceAllele": "T",
          "start": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.3:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:p.Leu1794Pro",
        "hgvsWellDefined": "NP_079413.3:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038221"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5148,
          "referenceAllele": "T",
          "start": 5147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_005254695.3:c.5123T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254752.1:p.Leu1708Pro",
        "hgvsWellDefined": "XP_005254752.1:p.Leu1708Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5268,
          "referenceAllele": "T",
          "start": 5267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720700.1:c.5237T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720763.1:p.Leu1746Pro",
        "hgvsWellDefined": "XP_006720763.1:p.Leu1746Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5412,
          "referenceAllele": "T",
          "start": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022634.1:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878123.1:p.Leu1794Pro",
        "hgvsWellDefined": "XP_016878123.1:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3221,
          "referenceAllele": "T",
          "start": 3220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022636.1:c.2258T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878125.1:p.Leu753Pro",
        "hgvsWellDefined": "XP_016878125.1:p.Leu753Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5435,
          "referenceAllele": "T",
          "start": 5434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.2:n.5435T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645408201",
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "referenceAllele": "T",
          "start": 5395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.4:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:p.Leu1794Pro",
        "hgvsWellDefined": "NP_079413.3:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.5381T>C"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.5381T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Leu1794Pro"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Leu1794Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825948191",
      "coordinates": [
        {
          "allele": "C",
          "end": 5396,
          "referenceAllele": "T",
          "start": 5395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.2:c.5381T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Leu1794Pro",
        "hgvsWellDefined": "NP_001153699.1:p.Leu1794Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678139"
    }
  ],
  "type": "nucleotide"
}