{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1245628253",
  "communityStandardTitle": [
    "NM_000104.4(CYP1B1):c.170G= (p.Trp57=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893623",
        "rs": 104893623
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 38075219,
          "referenceAllele": "C",
          "start": 38075218
        }
      ],
      "hgvs": [
        "NC_000002.12:g.38075219C=",
        "CM000664.2:g.38075219C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 38302362,
          "referenceAllele": "C",
          "start": 38302361
        }
      ],
      "hgvs": [
        "NC_000002.11:g.38302362C=",
        "CM000664.1:g.38302362C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 38155866,
          "referenceAllele": "C",
          "start": 38155865
        }
      ],
      "hgvs": [
        "NC_000002.10:g.38155866C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5883,
          "referenceAllele": "G",
          "start": 5882
        }
      ],
      "hgvs": [
        "NG_008386.2:g.5883G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001070"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000490576.2:c.170G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478839.2:p.Trp57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000610745.5:c.170G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478561.1:p.Trp57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610745.5:c.170G="
          },
          "RefSeq": {
            "hgvs": "NM_000104.4:c.170G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478561.1:p.Trp57="
          },
          "RefSeq": {
            "hgvs": "NP_000095.2:p.Trp57="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 307,
          "referenceAllele": "G",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000490576.1:c.170G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478839.1:p.Trp57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "endIntronDirection": "-",
          "endIntronOffset": 3908,
          "referenceAllele": "G",
          "start": 234,
          "startIntronDirection": "-",
          "startIntronOffset": 3909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000494864.1:c.-70-3909G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479876.1:n.-70-3909G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000610745.4:c.170G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478561.1:p.Trp57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "G",
          "start": 375,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000613082.1:n.375+561G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 472,
          "referenceAllele": "G",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000614273.1:c.170G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483678.1:p.Trp57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066514805",
      "coordinates": [
        {
          "allele": "G",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "NM_000104.3:c.170G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000095.2:p.Trp57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066514805",
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "NM_000104.4:c.170G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000095.2:p.Trp57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610745.5:c.170G="
          },
          "RefSeq": {
            "hgvs": "NM_000104.4:c.170G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478561.1:p.Trp57="
          },
          "RefSeq": {
            "hgvs": "NP_000095.2:p.Trp57="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}