{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA25620868",
  "communityStandardTitle": [
    "NM_003921.5(BCL10):c.578C>T (p.Pro193Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1449593[alleleid]",
        "alleleId": 1449593,
        "preferredName": "NM_003921.5(BCL10):c.578C>T (p.Pro193Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1507303",
        "RCV": [
          "RCV002048043"
        ],
        "variationId": 1507303
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.85733434G>A?assembly=hg19",
        "id": "chr1:g.85733434G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.85267751G>A?assembly=hg38",
        "id": "chr1:g.85267751G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/943467000",
        "rs": 943467000
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-85733434-G-A?dataset=gnomad_r2_1",
        "id": "1-85733434-G-A",
        "variant": "1:85733434 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-85267751-G-A?dataset=gnomad_r3",
        "id": "1-85267751-G-A",
        "variant": "1:85267751 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-85267751-G-A?dataset=gnomad_r4",
        "id": "1-85267751-G-A",
        "variant": "1:85267751 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 85267751,
          "referenceAllele": "G",
          "start": 85267750
        }
      ],
      "hgvs": [
        "NC_000001.11:g.85267751G>A",
        "CM000663.2:g.85267751G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 85733434,
          "referenceAllele": "G",
          "start": 85733433
        }
      ],
      "hgvs": [
        "NC_000001.10:g.85733434G>A",
        "CM000663.1:g.85733434G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 85506022,
          "referenceAllele": "G",
          "start": 85506021
        }
      ],
      "hgvs": [
        "NC_000001.9:g.85506022G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15150,
          "referenceAllele": "C",
          "start": 15149
        }
      ],
      "hgvs": [
        "NG_012216.1:g.15150C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14154,
          "referenceAllele": "C",
          "start": 14153
        }
      ],
      "hgvs": [
        "NG_012216.2:g.14154C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616175"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "ENST00000620248.3:c.545C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480561.2:p.Pro182Leu",
        "hgvsWellDefined": "ENSP00000480561.2:p.Pro182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "ENST00000620248.2:c.545C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480561.2:p.Pro182Leu",
        "hgvsWellDefined": "ENSP00000480561.2:p.Pro182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "ENST00000648566.1:c.578C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498104.1:p.Pro193Leu",
        "hgvsWellDefined": "ENSP00000498104.1:p.Pro193Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770054",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648566.1:c.578C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003921.5:c.578C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498104.1:p.Pro193Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003912.1:p.Pro193Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "ENST00000650582.1:n.1109C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "ENST00000370580.5:c.578C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359612.1:p.Pro193Leu",
        "hgvsWellDefined": "ENSP00000359612.1:p.Pro193Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "ENST00000620248.1:c.*72C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480561.1:n.*72C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573230519",
      "coordinates": [
        {
          "allele": "T",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "NM_003921.4:c.578C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003912.1:p.Pro193Leu",
        "hgvsWellDefined": "NP_003912.1:p.Pro193Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "XM_005271311.2:c.545C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271368.1:p.Pro182Leu",
        "hgvsWellDefined": "XP_005271368.1:p.Pro182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 996,
          "referenceAllele": "C",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "XM_011542397.1:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540699.1:p.Pro246Leu",
        "hgvsWellDefined": "XP_011540699.1:p.Pro246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "XM_011542398.1:c.704C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540700.1:p.Pro235Leu",
        "hgvsWellDefined": "XP_011540700.1:p.Pro235Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "XM_011542399.1:c.524C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540701.1:p.Pro175Leu",
        "hgvsWellDefined": "XP_011540701.1:p.Pro175Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827054484",
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "C",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "NM_001320715.1:c.545C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307644.1:p.Pro182Leu",
        "hgvsWellDefined": "NP_001307644.1:p.Pro182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573230519",
      "coordinates": [
        {
          "allele": "T",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "NM_003921.5:c.578C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003912.1:p.Pro193Leu",
        "hgvsWellDefined": "NP_003912.1:p.Pro193Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648566.1:c.578C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003921.5:c.578C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498104.1:p.Pro193Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003912.1:p.Pro193Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1000,
          "referenceAllele": "C",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "XM_011542397.3:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540699.1:p.Pro246Leu",
        "hgvsWellDefined": "XP_011540699.1:p.Pro246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 971,
          "referenceAllele": "C",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "XM_011542398.2:c.704C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540700.1:p.Pro235Leu",
        "hgvsWellDefined": "XP_011540700.1:p.Pro235Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "XM_011542399.2:c.524C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540701.1:p.Pro175Leu",
        "hgvsWellDefined": "XP_011540701.1:p.Pro175Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827054484",
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "referenceAllele": "C",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000989",
      "geneNCBI_id": 8915,
      "geneSymbol": "BCL10",
      "hgvs": [
        "NM_001320715.2:c.545C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307644.1:p.Pro182Leu",
        "hgvsWellDefined": "NP_001307644.1:p.Pro182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685014"
    }
  ],
  "type": "nucleotide"
}