{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118051",
  "communityStandardTitle": [
    "NM_004589.4(SCO1):c.521C>T (p.Pro174Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21217[alleleid]",
        "alleleId": 21217,
        "preferredName": "NM_004589.4(SCO1):c.521C>T (p.Pro174Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6178",
        "RCV": [
          "RCV000006555",
          "RCV001291618"
        ],
        "variationId": 6178
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.10596122G>A?assembly=hg19",
        "id": "chr17:g.10596122G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.10692805G>A?assembly=hg38",
        "id": "chr17:g.10692805G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894630",
        "rs": 104894630
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-10692805-G-A?dataset=gnomad_r4",
        "id": "17-10692805-G-A",
        "variant": "17:10692805 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 10692805,
          "referenceAllele": "G",
          "start": 10692804
        }
      ],
      "hgvs": [
        "NC_000017.11:g.10692805G>A",
        "CM000679.2:g.10692805G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 10596122,
          "referenceAllele": "G",
          "start": 10596121
        }
      ],
      "hgvs": [
        "NC_000017.10:g.10596122G>A",
        "CM000679.1:g.10596122G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 10536847,
          "referenceAllele": "G",
          "start": 10536846
        }
      ],
      "hgvs": [
        "NC_000017.9:g.10536847G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9764,
          "referenceAllele": "C",
          "start": 9763
        }
      ],
      "hgvs": [
        "NG_008228.2:g.9764C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000960"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010603",
      "geneNCBI_id": 6341,
      "geneSymbol": "SCO1",
      "hgvs": [
        "ENST00000255390.10:c.521C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255390.5:p.Pro174Leu",
        "hgvsWellDefined": "ENSP00000255390.5:p.Pro174Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741720",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255390.10:c.521C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004589.4:c.521C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255390.5:p.Pro174Leu"
          },
          "RefSeq": {
            "hgvs": "NP_004580.1:p.Pro174Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "referenceAllele": "C",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010603",
      "geneNCBI_id": 6341,
      "geneSymbol": "SCO1",
      "hgvs": [
        "ENST00000577335.2:c.*248C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464032.1:n.*248C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010603",
      "geneNCBI_id": 6341,
      "geneSymbol": "SCO1",
      "hgvs": [
        "ENST00000255390.9:c.521C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255390.5:p.Pro174Leu",
        "hgvsWellDefined": "ENSP00000255390.5:p.Pro174Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250099"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010603",
      "geneNCBI_id": 6341,
      "geneSymbol": "SCO1",
      "hgvs": [
        "ENST00000577335.1:c.*248C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464032.1:n.*248C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "endIntronDirection": "+",
          "endIntronOffset": 52,
          "referenceAllele": "C",
          "start": 492,
          "startIntronDirection": "+",
          "startIntronOffset": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010603",
      "geneNCBI_id": 6341,
      "geneSymbol": "SCO1",
      "hgvs": [
        "ENST00000577427.1:c.469+52C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463387.1:n.469+52C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384856"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096205",
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010603",
      "geneNCBI_id": 6341,
      "geneSymbol": "SCO1",
      "hgvs": [
        "NM_004589.3:c.521C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004580.1:p.Pro174Leu",
        "hgvsWellDefined": "NP_004580.1:p.Pro174Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010603",
      "geneNCBI_id": 6341,
      "geneSymbol": "SCO1",
      "hgvs": [
        "XM_005256751.2:c.188C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256808.1:p.Pro63Leu",
        "hgvsWellDefined": "XP_005256808.1:p.Pro63Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010603",
      "geneNCBI_id": 6341,
      "geneSymbol": "SCO1",
      "hgvs": [
        "XM_005256751.4:c.188C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256808.1:p.Pro63Leu",
        "hgvsWellDefined": "XP_005256808.1:p.Pro63Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534531"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096205",
      "coordinates": [
        {
          "allele": "T",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010603",
      "geneNCBI_id": 6341,
      "geneSymbol": "SCO1",
      "hgvs": [
        "NM_004589.4:c.521C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004580.1:p.Pro174Leu",
        "hgvsWellDefined": "NP_004580.1:p.Pro174Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666558",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255390.10:c.521C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004589.4:c.521C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255390.5:p.Pro174Leu"
          },
          "RefSeq": {
            "hgvs": "NP_004580.1:p.Pro174Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}