{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2183502928",
  "communityStandardTitle": [
    "NM_003613.4(CILP):c.2936A= (p.Gln979=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2679117",
        "rs": 2679117
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 65197350,
          "referenceAllele": "T",
          "start": 65197349
        }
      ],
      "hgvs": [
        "NC_000015.10:g.65197350T=",
        "CM000677.2:g.65197350T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 65489688,
          "referenceAllele": "T",
          "start": 65489687
        }
      ],
      "hgvs": [
        "NC_000015.9:g.65489688T=",
        "CM000677.1:g.65489688T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 63276741,
          "referenceAllele": "T",
          "start": 63276740
        }
      ],
      "hgvs": [
        "NC_000015.8:g.63276741T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19153,
          "referenceAllele": "A",
          "start": 19152
        }
      ],
      "hgvs": [
        "NG_012214.1:g.19153A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002295"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3088,
          "referenceAllele": "A",
          "start": 3087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001980",
      "geneNCBI_id": 8483,
      "geneSymbol": "CILP",
      "hgvs": [
        "ENST00000261883.6:c.2936A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261883.4:p.Gln979="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742235",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261883.6:c.2936A="
          },
          "RefSeq": {
            "hgvs": "NM_003613.4:c.2936A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261883.4:p.Gln979="
          },
          "RefSeq": {
            "hgvs": "NP_003604.4:p.Gln979="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3103,
          "referenceAllele": "A",
          "start": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001980",
      "geneNCBI_id": 8483,
      "geneSymbol": "CILP",
      "hgvs": [
        "ENST00000261883.5:c.2936A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261883.4:p.Gln979="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3117,
          "referenceAllele": "A",
          "start": 3116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001980",
      "geneNCBI_id": 8483,
      "geneSymbol": "CILP",
      "hgvs": [
        "NM_003613.3:c.2936A="
      ],
      "proteinEffect": {
        "hgvs": "NP_003604.3:p.Gln979="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4590,
          "referenceAllele": "A",
          "start": 4589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001980",
      "geneNCBI_id": 8483,
      "geneSymbol": "CILP",
      "hgvs": [
        "XM_017022678.2:c.3017A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878167.1:p.Gln1006="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3233,
          "referenceAllele": "A",
          "start": 3232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001980",
      "geneNCBI_id": 8483,
      "geneSymbol": "CILP",
      "hgvs": [
        "XM_017022679.1:c.2864A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878168.1:p.Gln955="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573589"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081908095",
      "coordinates": [
        {
          "allele": "A",
          "end": 3088,
          "referenceAllele": "A",
          "start": 3087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001980",
      "geneNCBI_id": 8483,
      "geneSymbol": "CILP",
      "hgvs": [
        "NM_003613.4:c.2936A="
      ],
      "proteinEffect": {
        "hgvs": "NP_003604.4:p.Gln979="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666099",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261883.6:c.2936A="
          },
          "RefSeq": {
            "hgvs": "NM_003613.4:c.2936A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261883.4:p.Gln979="
          },
          "RefSeq": {
            "hgvs": "NP_003604.4:p.Gln979="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}