{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346328028",
  "communityStandardTitle": [
    "NM_000104.4(CYP1B1):c.1023G>A (p.Trp341Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835664[alleleid]",
        "alleleId": 2835664,
        "preferredName": "NM_000104.4(CYP1B1):c.1023G>A (p.Trp341Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2681139",
        "RCV": [
          "RCV003468674"
        ],
        "variationId": 2681139
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.38301509C>T?assembly=hg19",
        "id": "chr2:g.38301509C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.38074366C>T?assembly=hg38",
        "id": "chr2:g.38074366C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1217351630",
        "rs": 1217351630
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-38074366-C-T?dataset=gnomad_r3",
        "id": "2-38074366-C-T",
        "variant": "2:38074366 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-38074366-C-T?dataset=gnomad_r4",
        "id": "2-38074366-C-T",
        "variant": "2:38074366 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 38074366,
          "referenceAllele": "C",
          "start": 38074365
        }
      ],
      "hgvs": [
        "NC_000002.12:g.38074366C>T",
        "CM000664.2:g.38074366C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 38301509,
          "referenceAllele": "C",
          "start": 38301508
        }
      ],
      "hgvs": [
        "NC_000002.11:g.38301509C>T",
        "CM000664.1:g.38301509C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 38155013,
          "referenceAllele": "C",
          "start": 38155012
        }
      ],
      "hgvs": [
        "NC_000002.10:g.38155013C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6736,
          "referenceAllele": "G",
          "start": 6735
        }
      ],
      "hgvs": [
        "NG_008386.2:g.6736G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001070"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000490576.2:c.1023G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478839.2:p.Trp341Ter",
        "hgvsWellDefined": "ENSP00000478839.2:p.Trp341_Gln543delinsLeuLeuLeuLeuPheThrArgTyrProAspValGlnThrArgValGlnAlaGluLeuAspGlnValValGlyArgAspArgLeuProCysMetGlyAspGlnProAsnLeuProTyrValLeuAlaPheLeuTyrGluAlaMetArgPheSerSerPheValProValThrIleProHisAlaThrThrAlaAsnThrSerValLeuGlyTyrHisIleProLysAspThrValValPheValAsnGlnTrpSerValAsnHisAspProLeuLysTrpProAsnProGluAsnPheAspProAlaArgPheLeuAspLysAspGlyLeuIleAsnLysAspLeuThrSerArgValMetIlePheSerValGlyLysArgArgCysIleGlyGluGluLeuSerLysMetGlnLeuPheLeuPheIleSerIleLeuAlaHisGlnCysAspPheArgAlaAsnProAsnGluProAlaLysMetAsnPheSerTyrGlyLeuThrIleLysProLysSerPheLysValAsnValThrLeuArgGluSerMetGluLeuLeuAspSerAlaValGlnAsnLeuGlnAlaLysGluThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1396,
          "referenceAllele": "G",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000610745.5:c.1023G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478561.1:p.Trp341Ter",
        "hgvsWellDefined": "ENSP00000478561.1:p.Trp341_Gln543delinsLeuLeuLeuLeuPheThrArgTyrProAspValGlnThrArgValGlnAlaGluLeuAspGlnValValGlyArgAspArgLeuProCysMetGlyAspGlnProAsnLeuProTyrValLeuAlaPheLeuTyrGluAlaMetArgPheSerSerPheValProValThrIleProHisAlaThrThrAlaAsnThrSerValLeuGlyTyrHisIleProLysAspThrValValPheValAsnGlnTrpSerValAsnHisAspProLeuLysTrpProAsnProGluAsnPheAspProAlaArgPheLeuAspLysAspGlyLeuIleAsnLysAspLeuThrSerArgValMetIlePheSerValGlyLysArgArgCysIleGlyGluGluLeuSerLysMetGlnLeuPheLeuPheIleSerIleLeuAlaHisGlnCysAspPheArgAlaAsnProAsnGluProAlaLysMetAsnPheSerTyrGlyLeuThrIleLysProLysSerPheLysValAsnValThrLeuArgGluSerMetGluLeuLeuAspSerAlaValGlnAsnLeuGlnAlaLysGluThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610745.5:c.1023G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000104.4:c.1023G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478561.1:p.Trp341Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000095.2:p.Trp341Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 234,
          "endIntronDirection": "-",
          "endIntronOffset": 3055,
          "referenceAllele": "G",
          "start": 234,
          "startIntronDirection": "-",
          "startIntronOffset": 3056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000494864.1:c.-70-3056G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479876.1:n.-70-3056G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1426,
          "referenceAllele": "G",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000610745.4:c.1023G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478561.1:p.Trp341Ter",
        "hgvsWellDefined": "ENSP00000478561.1:p.Trp341_Gln543delinsLeuLeuLeuLeuPheThrArgTyrProAspValGlnThrArgValGlnAlaGluLeuAspGlnValValGlyArgAspArgLeuProCysMetGlyAspGlnProAsnLeuProTyrValLeuAlaPheLeuTyrGluAlaMetArgPheSerSerPheValProValThrIleProHisAlaThrThrAlaAsnThrSerValLeuGlyTyrHisIleProLysAspThrValValPheValAsnGlnTrpSerValAsnHisAspProLeuLysTrpProAsnProGluAsnPheAspProAlaArgPheLeuAspLysAspGlyLeuIleAsnLysAspLeuThrSerArgValMetIlePheSerValGlyLysArgArgCysIleGlyGluGluLeuSerLysMetGlnLeuPheLeuPheIleSerIleLeuAlaHisGlnCysAspPheArgAlaAsnProAsnGluProAlaLysMetAsnPheSerTyrGlyLeuThrIleLysProLysSerPheLysValAsnValThrLeuArgGluSerMetGluLeuLeuAspSerAlaValGlnAsnLeuGlnAlaLysGluThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "referenceAllele": "G",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000613082.1:n.418G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1325,
          "referenceAllele": "G",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000614273.1:c.1023G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483678.1:p.Trp341Ter",
        "hgvsWellDefined": "ENSP00000483678.1:p.Trp341_Gln543delinsLeuLeuLeuLeuPheThrArgTyrProAspValGlnThrArgValGlnAlaGluLeuAspGlnValValGlyArgAspArgLeuProCysMetGlyAspGlnProAsnLeuProTyrValLeuAlaPheLeuTyrGluAlaMetArgPheSerSerPheValProValThrIleProHisAlaThrThrAlaAsnThrSerValLeuGlyTyrHisIleProLysAspThrValValPheValAsnGlnTrpSerValAsnHisAspProLeuLysTrpProAsnProGluAsnPheAspProAlaArgPheLeuAspLysAspGlyLeuIleAsnLysAspLeuThrSerArgValMetIlePheSerValGlyLysArgArgCysIleGlyGluGluLeuSerLysMetGlnLeuPheLeuPheIleSerIleLeuAlaHisGlnCysAspPheArgAlaAsnProAsnGluProAlaLysMetAsnPheSerTyrGlyLeuThrIleLysProLysSerPheLysValAsnValThrLeuArgGluSerMetGluLeuLeuAspSerAlaValGlnAsnLeuGlnAlaLysGluThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809193",
      "coordinates": [
        {
          "allele": "A",
          "end": 1426,
          "referenceAllele": "G",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "NM_000104.3:c.1023G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000095.2:p.Trp341Ter",
        "hgvsWellDefined": "NP_000095.2:p.Trp341_Gln543delinsLeuLeuLeuLeuPheThrArgTyrProAspValGlnThrArgValGlnAlaGluLeuAspGlnValValGlyArgAspArgLeuProCysMetGlyAspGlnProAsnLeuProTyrValLeuAlaPheLeuTyrGluAlaMetArgPheSerSerPheValProValThrIleProHisAlaThrThrAlaAsnThrSerValLeuGlyTyrHisIleProLysAspThrValValPheValAsnGlnTrpSerValAsnHisAspProLeuLysTrpProAsnProGluAsnPheAspProAlaArgPheLeuAspLysAspGlyLeuIleAsnLysAspLeuThrSerArgValMetIlePheSerValGlyLysArgArgCysIleGlyGluGluLeuSerLysMetGlnLeuPheLeuPheIleSerIleLeuAlaHisGlnCysAspPheArgAlaAsnProAsnGluProAlaLysMetAsnPheSerTyrGlyLeuThrIleLysProLysSerPheLysValAsnValThrLeuArgGluSerMetGluLeuLeuAspSerAlaValGlnAsnLeuGlnAlaLysGluThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809193",
      "coordinates": [
        {
          "allele": "A",
          "end": 1396,
          "referenceAllele": "G",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "NM_000104.4:c.1023G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000095.2:p.Trp341Ter",
        "hgvsWellDefined": "NP_000095.2:p.Trp341_Gln543delinsLeuLeuLeuLeuPheThrArgTyrProAspValGlnThrArgValGlnAlaGluLeuAspGlnValValGlyArgAspArgLeuProCysMetGlyAspGlnProAsnLeuProTyrValLeuAlaPheLeuTyrGluAlaMetArgPheSerSerPheValProValThrIleProHisAlaThrThrAlaAsnThrSerValLeuGlyTyrHisIleProLysAspThrValValPheValAsnGlnTrpSerValAsnHisAspProLeuLysTrpProAsnProGluAsnPheAspProAlaArgPheLeuAspLysAspGlyLeuIleAsnLysAspLeuThrSerArgValMetIlePheSerValGlyLysArgArgCysIleGlyGluGluLeuSerLysMetGlnLeuPheLeuPheIleSerIleLeuAlaHisGlnCysAspPheArgAlaAsnProAsnGluProAlaLysMetAsnPheSerTyrGlyLeuThrIleLysProLysSerPheLysValAsnValThrLeuArgGluSerMetGluLeuLeuAspSerAlaValGlnAsnLeuGlnAlaLysGluThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610745.5:c.1023G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000104.4:c.1023G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478561.1:p.Trp341Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000095.2:p.Trp341Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}