{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8130124",
  "communityStandardTitle": [
    "NM_004360.5(CDH1):c.1710T>C (p.Asn570=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=375322[alleleid]",
        "alleleId": 375322,
        "preferredName": "NM_004360.5(CDH1):c.1710T>C (p.Asn570=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/377641",
        "RCV": [
          "RCV000442492",
          "RCV000467987",
          "RCV000569904",
          "RCV000985657"
        ],
        "variationId": 377641
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-68853327-T-C",
        "id": "16-68853327-T-C",
        "variant": "16:68853327 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.68853327T>C?assembly=hg19",
        "id": "chr16:g.68853327T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.68819424T>C?assembly=hg38",
        "id": "chr16:g.68819424T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202115589",
        "rs": 202115589
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-68853327-T-C?dataset=gnomad_r2_1",
        "id": "16-68853327-T-C",
        "variant": "16:68853327 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-68819424-T-C?dataset=gnomad_r3",
        "id": "16-68819424-T-C",
        "variant": "16:68819424 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-68819424-T-C?dataset=gnomad_r4",
        "id": "16-68819424-T-C",
        "variant": "16:68819424 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 68819424,
          "referenceAllele": "T",
          "start": 68819423
        }
      ],
      "hgvs": [
        "NC_000016.10:g.68819424T>C",
        "CM000678.2:g.68819424T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 68853327,
          "referenceAllele": "T",
          "start": 68853326
        }
      ],
      "hgvs": [
        "NC_000016.9:g.68853327T>C",
        "CM000678.1:g.68853327T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 67410828,
          "referenceAllele": "T",
          "start": 67410827
        }
      ],
      "hgvs": [
        "NC_000016.8:g.67410828T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 87133,
          "referenceAllele": "T",
          "start": 87132
        }
      ],
      "hgvs": [
        "NG_008021.1:g.87133T>C",
        "LRG_301:g.87133T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000781"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1834,
          "referenceAllele": "T",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.10:c.1710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:p.Asn570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.1710T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.1710T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:p.Asn570="
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:p.Asn570="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1901,
          "referenceAllele": "T",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.9:c.1710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:p.Asn570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1591,
          "referenceAllele": "T",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000422392.6:c.1527T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414946.2:p.Asn509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1781,
          "referenceAllele": "T",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000562836.5:n.1781T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1685,
          "referenceAllele": "T",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566510.5:c.*376T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458139.1:n.*376T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1669,
          "endIntronDirection": "-",
          "endIntronOffset": 2576,
          "referenceAllele": "T",
          "start": 1669,
          "startIntronDirection": "-",
          "startIntronOffset": 2577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566612.5:c.1566-2577T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454782.1:n.1566-2577T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1897,
          "referenceAllele": "T",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000611625.4:c.1773T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481063.1:p.Asn591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1834,
          "referenceAllele": "T",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000612417.4:c.1710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478360.1:p.Asn570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1817,
          "referenceAllele": "T",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000621016.4:c.1710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480664.1:p.Asn570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829525350",
      "coordinates": [
        {
          "allele": "C",
          "end": 1834,
          "referenceAllele": "T",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.3:c.1710T>C",
        "LRG_301t1:c.1710T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Asn570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1700,
          "referenceAllele": "T",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523488.1:c.975T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521790.1:p.Asn325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1987,
          "referenceAllele": "T",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523489.1:c.975T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521791.1:p.Asn325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090626"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826961900",
      "coordinates": [
        {
          "allele": "C",
          "end": 1653,
          "referenceAllele": "T",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.1:c.1527T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:p.Asn509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826964048",
      "coordinates": [
        {
          "allele": "C",
          "end": 1903,
          "referenceAllele": "T",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.1:c.162T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:p.Asn54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1691,
          "endIntronDirection": "-",
          "endIntronOffset": 2576,
          "referenceAllele": "T",
          "start": 1691,
          "startIntronDirection": "-",
          "startIntronOffset": 2577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.1:c.-254-2577T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:n.-254-2577T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829525350",
      "coordinates": [
        {
          "allele": "C",
          "end": 1836,
          "referenceAllele": "T",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.4:c.1710T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Asn570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829525350",
      "coordinates": [
        {
          "allele": "C",
          "end": 1834,
          "referenceAllele": "T",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.5:c.1710T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Asn570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.1710T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.1710T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:p.Asn570="
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:p.Asn570="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826961900",
      "coordinates": [
        {
          "allele": "C",
          "end": 1651,
          "referenceAllele": "T",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.2:c.1527T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:p.Asn509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826964048",
      "coordinates": [
        {
          "allele": "C",
          "end": 1901,
          "referenceAllele": "T",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.2:c.162T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:p.Asn54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684262"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "endIntronDirection": "-",
          "endIntronOffset": 2576,
          "referenceAllele": "T",
          "start": 1689,
          "startIntronDirection": "-",
          "startIntronOffset": 2577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.2:c.-254-2577T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:n.-254-2577T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684263"
    }
  ],
  "type": "nucleotide"
}