{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5341882",
  "communityStandardTitle": [
    "NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=624391[alleleid]",
        "alleleId": 624391,
        "preferredName": "NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/637001",
        "RCV": [
          "RCV000788985",
          "RCV001856231",
          "RCV002352303",
          "RCV002271039",
          "RCV003159074"
        ],
        "variationId": 637001
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-139412624-G-A",
        "id": "9-139412624-G-A",
        "variant": "9:139412624 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.139412624G>A?assembly=hg19",
        "id": "chr9:g.139412624G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.136518172G>A?assembly=hg38",
        "id": "chr9:g.136518172G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754529382",
        "rs": 754529382
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-139412624-G-A?dataset=gnomad_r2_1",
        "id": "9-139412624-G-A",
        "variant": "9:139412624 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136518172-G-A?dataset=gnomad_r3",
        "id": "9-136518172-G-A",
        "variant": "9:136518172 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136518172-G-A?dataset=gnomad_r4",
        "id": "9-136518172-G-A",
        "variant": "9:136518172 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 136518172,
          "referenceAllele": "G",
          "start": 136518171
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136518172G>A",
        "CM000671.2:g.136518172G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 139412624,
          "referenceAllele": "G",
          "start": 139412623
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139412624G>A",
        "CM000671.1:g.139412624G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 138532445,
          "referenceAllele": "G",
          "start": 138532444
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138532445G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32615,
          "referenceAllele": "C",
          "start": 32614
        }
      ],
      "hgvs": [
        "NG_007458.1:g.32615C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000584"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000651671.1:c.1220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498587.1:p.Pro407Leu",
        "hgvsWellDefined": "ENSP00000498587.1:p.Pro407Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771797",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.1220C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.1220C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:p.Pro407Leu"
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:p.Pro407Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000679595.1:c.1220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506241.1:p.Pro407Leu",
        "hgvsWellDefined": "ENSP00000506241.1:p.Pro407Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1431,
          "referenceAllele": "C",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680133.1:c.1220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505319.1:p.Pro407Leu",
        "hgvsWellDefined": "ENSP00000505319.1:p.Pro407Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680218.1:c.1220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505339.1:p.Pro407Leu",
        "hgvsWellDefined": "ENSP00000505339.1:p.Pro407Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680668.1:c.1220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506336.1:p.Pro407Leu",
        "hgvsWellDefined": "ENSP00000506336.1:p.Pro407Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680924.1:c.1220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506031.1:p.Pro407Leu",
        "hgvsWellDefined": "ENSP00000506031.1:p.Pro407Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681135.1:c.1220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506636.1:p.Pro407Leu",
        "hgvsWellDefined": "ENSP00000506636.1:p.Pro407Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 880,
          "referenceAllele": "C",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681454.1:c.*456C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505763.1:n.*456C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1296,
          "referenceAllele": "C",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000277541.6:c.1220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000277541.6:p.Pro407Leu",
        "hgvsWellDefined": "ENSP00000277541.6:p.Pro407Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916053053",
      "coordinates": [
        {
          "allele": "T",
          "end": 1220,
          "referenceAllele": "C",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.3:c.1220C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:p.Pro407Leu",
        "hgvsWellDefined": "NP_060087.3:p.Pro407Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "C",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.1:c.521C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.1:p.Pro174Leu",
        "hgvsWellDefined": "XP_011517019.1:p.Pro174Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916053053",
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.5:c.1220C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:p.Pro407Leu",
        "hgvsWellDefined": "NP_060087.3:p.Pro407Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.1220C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.1220C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:p.Pro407Leu"
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:p.Pro407Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "C",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.2:c.497C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.2:p.Pro166Leu",
        "hgvsWellDefined": "XP_011517019.2:p.Pro166Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545044"
    }
  ],
  "type": "nucleotide"
}