{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15491990",
  "communityStandardTitle": [
    "NM_001348946.2(ABCB1):c.1554+81C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=817343[alleleid]",
        "alleleId": 817343,
        "preferredName": "NM_001348946.2(ABCB1):c.1554+81C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/829485",
        "RCV": [
          "RCV001029408"
        ],
        "variationId": 829485
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.87179086G>A?assembly=hg19",
        "id": "chr7:g.87179086G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.87549770G>A?assembly=hg38",
        "id": "chr7:g.87549770G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2235035",
        "rs": 2235035
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-87179086-G-A?dataset=gnomad_r2_1",
        "id": "7-87179086-G-A",
        "variant": "7:87179086 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-87549770-G-A?dataset=gnomad_r3",
        "id": "7-87549770-G-A",
        "variant": "7:87549770 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-87549770-G-A?dataset=gnomad_r4",
        "id": "7-87549770-G-A",
        "variant": "7:87549770 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 87549770,
          "referenceAllele": "G",
          "start": 87549769
        }
      ],
      "hgvs": [
        "NC_000007.14:g.87549770G>A",
        "CM000669.2:g.87549770G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 87179086,
          "referenceAllele": "G",
          "start": 87179085
        }
      ],
      "hgvs": [
        "NC_000007.13:g.87179086G>A",
        "CM000669.1:g.87179086G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 87017022,
          "referenceAllele": "G",
          "start": 87017021
        }
      ],
      "hgvs": [
        "NC_000007.12:g.87017022G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168479,
          "referenceAllele": "C",
          "start": 168478
        }
      ],
      "hgvs": [
        "NG_011513.1:g.168479C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001780"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 2047,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000265724.8:c.1554+81C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265724.3:n.1554+81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 1690,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000622132.5:c.1554+81C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478255.1:n.1554+81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762354",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622132.5:c.1554+81C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001348946.2:c.1554+81C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478255.1:n.1554+81C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001335875.1:n.1554+81C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 1972,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000265724.7:c.1554+81C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265724.3:n.1554+81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 308,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000482527.1:n.308+81C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1855,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 1855,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000543898.5:c.1362+81C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444095.1:n.1362+81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1879,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 1879,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000622132.4:c.1554+81C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478255.1:n.1554+81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 2047,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_000927.4:c.1554+81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000918.2:n.1554+81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1900,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 1900,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348944.1:c.1554+81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335873.1:n.1554+81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2099,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 2099,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348945.1:c.1764+81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335874.1:n.1764+81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1694,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 1694,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348946.1:c.1554+81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335875.1:n.1554+81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 1690,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348946.2:c.1554+81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335875.1:n.1554+81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622132.5:c.1554+81C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001348946.2:c.1554+81C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478255.1:n.1554+81C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001335875.1:n.1554+81C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2019,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 2019,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_000927.5:c.1554+81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000918.2:n.1554+81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1872,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 1872,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348944.2:c.1554+81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335873.1:n.1554+81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2071,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 2071,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348945.2:c.1764+81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335874.1:n.1764+81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719201"
    }
  ],
  "type": "nucleotide"
}