{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2187455184",
  "communityStandardTitle": [
    "NM_005576.4(LOXL1):c.1102+2761C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1078967",
        "rs": 1078967
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 73930646,
          "referenceAllele": "C",
          "start": 73930645
        }
      ],
      "hgvs": [
        "NC_000015.10:g.73930646C=",
        "CM000677.2:g.73930646C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 74222987,
          "referenceAllele": "C",
          "start": 74222986
        }
      ],
      "hgvs": [
        "NC_000015.9:g.74222987C=",
        "CM000677.1:g.74222987C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 72010040,
          "referenceAllele": "C",
          "start": 72010039
        }
      ],
      "hgvs": [
        "NC_000015.8:g.72010040C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9199,
          "referenceAllele": "C",
          "start": 9198
        }
      ],
      "hgvs": [
        "NG_011466.1:g.9199C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001734"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1424,
          "endIntronDirection": "+",
          "endIntronOffset": 2761,
          "referenceAllele": "C",
          "start": 1424,
          "startIntronDirection": "+",
          "startIntronOffset": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "ENST00000261921.8:c.1102+2761C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261921.7:n.1102+2761C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742244",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261921.8:c.1102+2761C="
          },
          "RefSeq": {
            "hgvs": "NM_005576.4:c.1102+2761C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261921.7:n.1102+2761C="
          },
          "RefSeq": {
            "hgvs": "NP_005567.2:n.1102+2761C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1428,
          "endIntronDirection": "+",
          "endIntronOffset": 2761,
          "referenceAllele": "C",
          "start": 1428,
          "startIntronDirection": "+",
          "startIntronOffset": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "ENST00000261921.7:c.1102+2761C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261921.7:n.1102+2761C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1897,
          "endIntronDirection": "+",
          "endIntronOffset": 2761,
          "referenceAllele": "C",
          "start": 1897,
          "startIntronDirection": "+",
          "startIntronOffset": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "ENST00000566011.5:c.1102+2761C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457827.1:n.1102+2761C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1438,
          "endIntronDirection": "+",
          "endIntronOffset": 2761,
          "referenceAllele": "C",
          "start": 1438,
          "startIntronDirection": "+",
          "startIntronOffset": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "NM_005576.2:c.1102+2761C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005567.2:n.1102+2761C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030666"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1435,
          "endIntronDirection": "+",
          "endIntronOffset": 2761,
          "referenceAllele": "C",
          "start": 1435,
          "startIntronDirection": "+",
          "startIntronOffset": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "XM_011521555.1:c.1102+2761C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519857.1:n.1102+2761C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088715"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1435,
          "endIntronDirection": "+",
          "endIntronOffset": 2761,
          "referenceAllele": "C",
          "start": 1435,
          "startIntronDirection": "+",
          "startIntronOffset": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "XR_931824.1:n.1435+2761C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1428,
          "endIntronDirection": "+",
          "endIntronOffset": 2761,
          "referenceAllele": "C",
          "start": 1428,
          "startIntronDirection": "+",
          "startIntronOffset": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "NM_005576.3:c.1102+2761C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005567.2:n.1102+2761C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525325"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1424,
          "endIntronDirection": "+",
          "endIntronOffset": 2761,
          "referenceAllele": "C",
          "start": 1424,
          "startIntronDirection": "+",
          "startIntronOffset": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "XM_011521555.2:c.1102+2761C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519857.1:n.1102+2761C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1424,
          "endIntronDirection": "+",
          "endIntronOffset": 2761,
          "referenceAllele": "C",
          "start": 1424,
          "startIntronDirection": "+",
          "startIntronOffset": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "XR_931824.2:n.1424+2761C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1424,
          "endIntronDirection": "+",
          "endIntronOffset": 2761,
          "referenceAllele": "C",
          "start": 1424,
          "startIntronDirection": "+",
          "startIntronOffset": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "NM_005576.4:c.1102+2761C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005567.2:n.1102+2761C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667040",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261921.8:c.1102+2761C="
          },
          "RefSeq": {
            "hgvs": "NM_005576.4:c.1102+2761C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261921.7:n.1102+2761C="
          },
          "RefSeq": {
            "hgvs": "NP_005567.2:n.1102+2761C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}