{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA288016",
  "communityStandardTitle": [
    "NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=19821",
        "active": true,
        "id": "COSM19821"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27284[alleleid]",
        "alleleId": 27284,
        "preferredName": "NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12245",
        "RCV": [
          "RCV000013032",
          "RCV000115833",
          "RCV000212359",
          "RCV000677871",
          "RCV000858947",
          "RCV001798002",
          "RCV003328156",
          "RCV003974819"
        ],
        "variationId": 12245
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-68846047-A-G",
        "id": "16-68846047-A-G",
        "variant": "16:68846047 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.68846047A>G?assembly=hg19",
        "id": "chr16:g.68846047A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.68812144A>G?assembly=hg38",
        "id": "chr16:g.68812144A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116093741",
        "rs": 116093741
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-68846047-A-G?dataset=gnomad_r2_1",
        "id": "16-68846047-A-G",
        "variant": "16:68846047 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-68812144-A-G?dataset=gnomad_r3",
        "id": "16-68812144-A-G",
        "variant": "16:68812144 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-68812144-A-G?dataset=gnomad_r4",
        "id": "16-68812144-A-G",
        "variant": "16:68812144 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 68812144,
          "referenceAllele": "A",
          "start": 68812143
        }
      ],
      "hgvs": [
        "NC_000016.10:g.68812144A>G",
        "CM000678.2:g.68812144A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 68846047,
          "referenceAllele": "A",
          "start": 68846046
        }
      ],
      "hgvs": [
        "NC_000016.9:g.68846047A>G",
        "CM000678.1:g.68846047A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 67403548,
          "referenceAllele": "A",
          "start": 67403547
        }
      ],
      "hgvs": [
        "NC_000016.8:g.67403548A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 79853,
          "referenceAllele": "A",
          "start": 79852
        }
      ],
      "hgvs": [
        "NG_008021.1:g.79853A>G",
        "LRG_301:g.79853A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000781"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.10:c.1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:p.Thr340Ala",
        "hgvsWellDefined": "ENSP00000261769.4:p.Thr340Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.1018A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.1018A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:p.Thr340Ala"
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:p.Thr340Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1209,
          "referenceAllele": "A",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.9:c.1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:p.Thr340Ala",
        "hgvsWellDefined": "ENSP00000261769.4:p.Thr340Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1082,
          "referenceAllele": "A",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000422392.6:c.1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414946.2:p.Thr340Ala",
        "hgvsWellDefined": "ENSP00000414946.2:p.Thr340Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 640,
          "referenceAllele": "A",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000561751.1:c.640A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1089,
          "referenceAllele": "A",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000562836.5:n.1089A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62,
          "referenceAllele": "A",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000565810.1:n.62A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 926,
          "referenceAllele": "A",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566510.5:c.862A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458139.1:p.Thr288Ala",
        "hgvsWellDefined": "ENSP00000458139.1:p.Thr288Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1122,
          "referenceAllele": "A",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566612.5:c.1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454782.1:p.Thr340Ala",
        "hgvsWellDefined": "ENSP00000454782.1:p.Thr340Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000611625.4:c.1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481063.1:p.Thr340Ala",
        "hgvsWellDefined": "ENSP00000481063.1:p.Thr340Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400932"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000612417.4:c.1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478360.1:p.Thr340Ala",
        "hgvsWellDefined": "ENSP00000478360.1:p.Thr340Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1125,
          "referenceAllele": "A",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000621016.4:c.1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480664.1:p.Thr340Ala",
        "hgvsWellDefined": "ENSP00000480664.1:p.Thr340Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA288018",
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.3:c.1018A>G",
        "LRG_301t1:c.1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Thr340Ala",
        "hgvsWellDefined": "NP_004351.1:p.Thr340Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "A",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523488.1:c.283A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521790.1:p.Thr95Ala",
        "hgvsWellDefined": "XP_011521790.1:p.Thr95Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1295,
          "referenceAllele": "A",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523489.1:c.283A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521791.1:p.Thr95Ala",
        "hgvsWellDefined": "XP_011521791.1:p.Thr95Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090626"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826960699",
      "coordinates": [
        {
          "allele": "G",
          "end": 1144,
          "referenceAllele": "A",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.1:c.1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:p.Thr340Ala",
        "hgvsWellDefined": "NP_001304113.1:p.Thr340Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1144,
          "referenceAllele": "A",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.1:c.-598A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:n.-598A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1144,
          "referenceAllele": "A",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.1:c.-802A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:n.-802A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA288018",
      "coordinates": [
        {
          "allele": "G",
          "end": 1144,
          "referenceAllele": "A",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.4:c.1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Thr340Ala",
        "hgvsWellDefined": "NP_004351.1:p.Thr340Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA288018",
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.5:c.1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Thr340Ala",
        "hgvsWellDefined": "NP_004351.1:p.Thr340Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.1018A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.1018A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:p.Thr340Ala"
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:p.Thr340Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826960699",
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.2:c.1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:p.Thr340Ala",
        "hgvsWellDefined": "NP_001304113.1:p.Thr340Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.2:c.-598A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:n.-598A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684262"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.2:c.-802A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:n.-802A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684263"
    }
  ],
  "type": "nucleotide"
}