{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16603137",
  "communityStandardTitle": [
    "NM_000245.4(MET):c.3298A>T (p.Asn1100Tyr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=702",
        "active": true,
        "id": "COSM702"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363608[alleleid]",
        "alleleId": 363608,
        "preferredName": "NM_000245.4(MET):c.3298A>T (p.Asn1100Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376729",
        "RCV": [
          "RCV000418101"
        ],
        "variationId": 376729
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.116417481A>T?assembly=hg19",
        "id": "chr7:g.116417481A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.116777427A>T?assembly=hg38",
        "id": "chr7:g.116777427A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520030",
        "rs": 1057520030
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 116777427,
          "referenceAllele": "A",
          "start": 116777426
        }
      ],
      "hgvs": [
        "NC_000007.14:g.116777427A>T",
        "CM000669.2:g.116777427A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 116417481,
          "referenceAllele": "A",
          "start": 116417480
        }
      ],
      "hgvs": [
        "NC_000007.13:g.116417481A>T",
        "CM000669.1:g.116417481A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 116204717,
          "referenceAllele": "A",
          "start": 116204716
        }
      ],
      "hgvs": [
        "NC_000007.12:g.116204717A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 110023,
          "referenceAllele": "A",
          "start": 110022
        }
      ],
      "hgvs": [
        "NG_008996.1:g.110023A>T",
        "LRG_662:g.110023A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001367"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3594,
          "referenceAllele": "A",
          "start": 3593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000436117.3:c.*903A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410980.2:n.*903A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3748,
          "referenceAllele": "A",
          "start": 3747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000318493.11:c.3352A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317272.6:p.Asn1118Tyr",
        "hgvsWellDefined": "ENSP00000317272.6:p.Asn1118Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3694,
          "referenceAllele": "A",
          "start": 3693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000397752.8:c.3298A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380860.3:p.Asn1100Tyr",
        "hgvsWellDefined": "ENSP00000380860.3:p.Asn1100Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397752.8:c.3298A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000245.4:c.3298A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380860.3:p.Asn1100Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000236.2:p.Asn1100Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3539,
          "referenceAllele": "A",
          "start": 3538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000318493.10:c.3352A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317272.6:p.Asn1118Tyr",
        "hgvsWellDefined": "ENSP00000317272.6:p.Asn1118Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3498,
          "referenceAllele": "A",
          "start": 3497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "ENST00000397752.7:c.3298A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380860.3:p.Asn1100Tyr",
        "hgvsWellDefined": "ENSP00000380860.3:p.Asn1100Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277959"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825103871",
      "coordinates": [
        {
          "allele": "T",
          "end": 3485,
          "referenceAllele": "A",
          "start": 3484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_000245.2:c.3298A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000236.2:p.Asn1100Tyr",
        "hgvsWellDefined": "NP_000236.2:p.Asn1100Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645448193",
      "coordinates": [
        {
          "allele": "T",
          "end": 3539,
          "referenceAllele": "A",
          "start": 3538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001127500.1:c.3352A>T",
        "LRG_662t1:c.3352A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120972.1:p.Asn1118Tyr",
        "hgvsWellDefined": "NP_001120972.1:p.Asn1118Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2239,
          "referenceAllele": "A",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "XM_006715990.2:c.2008A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716053.1:p.Asn670Tyr",
        "hgvsWellDefined": "XP_006716053.1:p.Asn670Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2221,
          "referenceAllele": "A",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "XM_006715991.2:c.2008A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716054.1:p.Asn670Tyr",
        "hgvsWellDefined": "XP_006716054.1:p.Asn670Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3529,
          "referenceAllele": "A",
          "start": 3528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "XM_011516223.1:c.3355A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514525.1:p.Asn1119Tyr",
        "hgvsWellDefined": "XP_011514525.1:p.Asn1119Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825103871",
      "coordinates": [
        {
          "allele": "T",
          "end": 3500,
          "referenceAllele": "A",
          "start": 3499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_000245.3:c.3298A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000236.2:p.Asn1100Tyr",
        "hgvsWellDefined": "NP_000236.2:p.Asn1100Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645448193",
      "coordinates": [
        {
          "allele": "T",
          "end": 3554,
          "referenceAllele": "A",
          "start": 3553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001127500.2:c.3352A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120972.1:p.Asn1118Tyr",
        "hgvsWellDefined": "NP_001120972.1:p.Asn1118Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027536",
      "coordinates": [
        {
          "allele": "T",
          "end": 2317,
          "referenceAllele": "A",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001324402.1:c.2008A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311331.1:p.Asn670Tyr",
        "hgvsWellDefined": "NP_001311331.1:p.Asn670Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3429,
          "referenceAllele": "A",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "XR_001744772.1:n.3429A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645448193",
      "coordinates": [
        {
          "allele": "T",
          "end": 3748,
          "referenceAllele": "A",
          "start": 3747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001127500.3:c.3352A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120972.1:p.Asn1118Tyr",
        "hgvsWellDefined": "NP_001120972.1:p.Asn1118Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825103871",
      "coordinates": [
        {
          "allele": "T",
          "end": 3694,
          "referenceAllele": "A",
          "start": 3693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_000245.4:c.3298A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000236.2:p.Asn1100Tyr",
        "hgvsWellDefined": "NP_000236.2:p.Asn1100Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674760",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397752.8:c.3298A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000245.4:c.3298A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380860.3:p.Asn1100Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000236.2:p.Asn1100Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027536",
      "coordinates": [
        {
          "allele": "T",
          "end": 2480,
          "referenceAllele": "A",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007029",
      "geneNCBI_id": 4233,
      "geneSymbol": "MET",
      "hgvs": [
        "NM_001324402.2:c.2008A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311331.1:p.Asn670Tyr",
        "hgvsWellDefined": "NP_001311331.1:p.Asn670Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686384"
    }
  ],
  "type": "nucleotide"
}