{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA396465470",
  "communityStandardTitle": [
    "NM_004360.5(CDH1):c.1711G>T (p.Gly571Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2186277[alleleid]",
        "alleleId": 2186277,
        "preferredName": "NM_004360.5(CDH1):c.1711G>T (p.Gly571Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2130982",
        "RCV": [
          "RCV003047974"
        ],
        "variationId": 2130982
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.68853328G>T?assembly=hg19",
        "id": "chr16:g.68853328G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.68819425G>T?assembly=hg38",
        "id": "chr16:g.68819425G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786202290",
        "rs": 786202290
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 68819425,
          "referenceAllele": "G",
          "start": 68819424
        }
      ],
      "hgvs": [
        "NC_000016.10:g.68819425G>T",
        "CM000678.2:g.68819425G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 68853328,
          "referenceAllele": "G",
          "start": 68853327
        }
      ],
      "hgvs": [
        "NC_000016.9:g.68853328G>T",
        "CM000678.1:g.68853328G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 67410829,
          "referenceAllele": "G",
          "start": 67410828
        }
      ],
      "hgvs": [
        "NC_000016.8:g.67410829G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87134,
          "referenceAllele": "G",
          "start": 87133
        }
      ],
      "hgvs": [
        "NG_008021.1:g.87134G>T",
        "LRG_301:g.87134G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000781"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1835,
          "referenceAllele": "G",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.10:c.1711G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:p.Gly571Cys",
        "hgvsWellDefined": "ENSP00000261769.4:p.Gly571Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.1711G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.1711G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:p.Gly571Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:p.Gly571Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1902,
          "referenceAllele": "G",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.9:c.1711G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:p.Gly571Cys",
        "hgvsWellDefined": "ENSP00000261769.4:p.Gly571Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1592,
          "referenceAllele": "G",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000422392.6:c.1528G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414946.2:p.Gly510Cys",
        "hgvsWellDefined": "ENSP00000414946.2:p.Gly510Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1782,
          "referenceAllele": "G",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000562836.5:n.1782G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1686,
          "referenceAllele": "G",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566510.5:c.*377G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458139.1:n.*377G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1669,
          "endIntronDirection": "-",
          "endIntronOffset": 2575,
          "referenceAllele": "G",
          "start": 1669,
          "startIntronDirection": "-",
          "startIntronOffset": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566612.5:c.1566-2576G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454782.1:n.1566-2576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1898,
          "referenceAllele": "G",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000611625.4:c.1774G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481063.1:p.Gly592Cys",
        "hgvsWellDefined": "ENSP00000481063.1:p.Gly592Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1835,
          "referenceAllele": "G",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000612417.4:c.1711G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478360.1:p.Gly571Cys",
        "hgvsWellDefined": "ENSP00000478360.1:p.Gly571Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1818,
          "referenceAllele": "G",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000621016.4:c.1711G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480664.1:p.Gly571Cys",
        "hgvsWellDefined": "ENSP00000480664.1:p.Gly571Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580304962",
      "coordinates": [
        {
          "allele": "T",
          "end": 1835,
          "referenceAllele": "G",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.3:c.1711G>T",
        "LRG_301t1:c.1711G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Gly571Cys",
        "hgvsWellDefined": "NP_004351.1:p.Gly571Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029525"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1701,
          "referenceAllele": "G",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523488.1:c.976G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521790.1:p.Gly326Cys",
        "hgvsWellDefined": "XP_011521790.1:p.Gly326Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1988,
          "referenceAllele": "G",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523489.1:c.976G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521791.1:p.Gly326Cys",
        "hgvsWellDefined": "XP_011521791.1:p.Gly326Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090626"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826961908",
      "coordinates": [
        {
          "allele": "T",
          "end": 1654,
          "referenceAllele": "G",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.1:c.1528G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:p.Gly510Cys",
        "hgvsWellDefined": "NP_001304113.1:p.Gly510Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826964053",
      "coordinates": [
        {
          "allele": "T",
          "end": 1904,
          "referenceAllele": "G",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.1:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:p.Gly55Cys",
        "hgvsWellDefined": "NP_001304114.1:p.Gly55Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1691,
          "endIntronDirection": "-",
          "endIntronOffset": 2575,
          "referenceAllele": "G",
          "start": 1691,
          "startIntronDirection": "-",
          "startIntronOffset": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.1:c.-254-2576G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:n.-254-2576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580304962",
      "coordinates": [
        {
          "allele": "T",
          "end": 1837,
          "referenceAllele": "G",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.4:c.1711G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Gly571Cys",
        "hgvsWellDefined": "NP_004351.1:p.Gly571Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580304962",
      "coordinates": [
        {
          "allele": "T",
          "end": 1835,
          "referenceAllele": "G",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.5:c.1711G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Gly571Cys",
        "hgvsWellDefined": "NP_004351.1:p.Gly571Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.1711G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.1711G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:p.Gly571Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:p.Gly571Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826961908",
      "coordinates": [
        {
          "allele": "T",
          "end": 1652,
          "referenceAllele": "G",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.2:c.1528G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:p.Gly510Cys",
        "hgvsWellDefined": "NP_001304113.1:p.Gly510Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826964053",
      "coordinates": [
        {
          "allele": "T",
          "end": 1902,
          "referenceAllele": "G",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.2:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:p.Gly55Cys",
        "hgvsWellDefined": "NP_001304114.1:p.Gly55Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1689,
          "endIntronDirection": "-",
          "endIntronOffset": 2575,
          "referenceAllele": "G",
          "start": 1689,
          "startIntronDirection": "-",
          "startIntronOffset": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.2:c.-254-2576G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:n.-254-2576G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684263"
    }
  ],
  "type": "nucleotide"
}