{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA375644945",
  "communityStandardTitle": [
    "NM_017617.5(NOTCH1):c.4799T>C (p.Leu1600Pro)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=12771",
        "active": true,
        "id": "COSM12771"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=327160",
        "active": true,
        "id": "COSM327160"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.139399344A>G?assembly=hg19",
        "id": "chr9:g.139399344A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.136504892A>G?assembly=hg38",
        "id": "chr9:g.136504892A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2133336719",
        "rs": 2133336719
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 136504892,
          "referenceAllele": "A",
          "start": 136504891
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136504892A>G",
        "CM000671.2:g.136504892A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 139399344,
          "referenceAllele": "A",
          "start": 139399343
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139399344A>G",
        "CM000671.1:g.139399344A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 138519165,
          "referenceAllele": "A",
          "start": 138519164
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138519165A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 45895,
          "referenceAllele": "T",
          "start": 45894
        }
      ],
      "hgvs": [
        "NG_007458.1:g.45895T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000584"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2606,
          "referenceAllele": "T",
          "start": 2605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000645828.1:n.2606T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5061,
          "referenceAllele": "T",
          "start": 5060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000651671.1:c.4799T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498587.1:p.Leu1600Pro",
        "hgvsWellDefined": "ENSP00000498587.1:p.Leu1600Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771797",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.4799T>C"
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.4799T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:p.Leu1600Pro"
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:p.Leu1600Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5061,
          "referenceAllele": "T",
          "start": 5060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000679595.1:c.4799T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506241.1:p.Leu1600Pro",
        "hgvsWellDefined": "ENSP00000506241.1:p.Leu1600Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4896,
          "referenceAllele": "T",
          "start": 4895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680133.1:c.4685T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505319.1:p.Leu1562Pro",
        "hgvsWellDefined": "ENSP00000505319.1:p.Leu1562Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4941,
          "referenceAllele": "T",
          "start": 4940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680218.1:c.4679T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505339.1:p.Leu1560Pro",
        "hgvsWellDefined": "ENSP00000505339.1:p.Leu1560Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4947,
          "referenceAllele": "T",
          "start": 4946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680668.1:c.4685T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506336.1:p.Leu1562Pro",
        "hgvsWellDefined": "ENSP00000506336.1:p.Leu1562Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2488,
          "referenceAllele": "T",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680778.1:c.2396T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506033.1:p.Leu799Pro",
        "hgvsWellDefined": "ENSP00000506033.1:p.Leu799Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5029,
          "referenceAllele": "T",
          "start": 5028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680924.1:c.*2199T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506031.1:n.*2199T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5142,
          "referenceAllele": "T",
          "start": 5141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681135.1:c.*2408T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506636.1:n.*2408T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1612,
          "referenceAllele": "T",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681298.1:n.1612T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4459,
          "referenceAllele": "T",
          "start": 4458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681454.1:c.*4035T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505763.1:n.*4035T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4875,
          "referenceAllele": "T",
          "start": 4874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000277541.6:c.4799T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000277541.6:p.Leu1600Pro",
        "hgvsWellDefined": "ENSP00000277541.6:p.Leu1600Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076447189",
      "coordinates": [
        {
          "allele": "C",
          "end": 4799,
          "referenceAllele": "T",
          "start": 4798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.3:c.4799T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:p.Leu1600Pro",
        "hgvsWellDefined": "NP_060087.3:p.Leu1600Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4119,
          "referenceAllele": "T",
          "start": 4118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.1:c.4100T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.1:p.Leu1367Pro",
        "hgvsWellDefined": "XP_011517019.1:p.Leu1367Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076447189",
      "coordinates": [
        {
          "allele": "C",
          "end": 5061,
          "referenceAllele": "T",
          "start": 5060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.5:c.4799T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:p.Leu1600Pro",
        "hgvsWellDefined": "NP_060087.3:p.Leu1600Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.4799T>C"
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.4799T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:p.Leu1600Pro"
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:p.Leu1600Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4091,
          "referenceAllele": "T",
          "start": 4090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.2:c.4076T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.2:p.Leu1359Pro",
        "hgvsWellDefined": "XP_011517019.2:p.Leu1359Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545044"
    }
  ],
  "type": "nucleotide"
}