{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7313115",
  "communityStandardTitle": [
    "NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=321768[alleleid]",
        "alleleId": 321768,
        "preferredName": "NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/314930",
        "RCV": [
          "RCV000390612"
        ],
        "variationId": 314930
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-92440974-A-G",
        "id": "14-92440974-A-G",
        "variant": "14:92440974 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.92440974A>G?assembly=hg19",
        "id": "chr14:g.92440974A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.91974630A>G?assembly=hg38",
        "id": "chr14:g.91974630A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369316409",
        "rs": 369316409
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-92440974-A-G?dataset=gnomad_r2_1",
        "id": "14-92440974-A-G",
        "variant": "14:92440974 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-91974630-A-G?dataset=gnomad_r3",
        "id": "14-91974630-A-G",
        "variant": "14:91974630 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-91974630-A-G?dataset=gnomad_r4",
        "id": "14-91974630-A-G",
        "variant": "14:91974630 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 91974630,
          "referenceAllele": "A",
          "start": 91974629
        }
      ],
      "hgvs": [
        "NC_000014.9:g.91974630A>G",
        "CM000676.2:g.91974630A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 92440974,
          "referenceAllele": "A",
          "start": 92440973
        }
      ],
      "hgvs": [
        "NC_000014.8:g.92440974A>G",
        "CM000676.1:g.92440974A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 91510727,
          "referenceAllele": "A",
          "start": 91510726
        }
      ],
      "hgvs": [
        "NC_000014.7:g.91510727A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 70430,
          "referenceAllele": "T",
          "start": 70429
        }
      ],
      "hgvs": [
        "NG_016970.1:g.70430T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003339"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5945,
          "referenceAllele": "T",
          "start": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "ENST00000267622.8:c.5571T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267622.4:p.Asn1857="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252010",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267622.8:c.5571T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004239.4:c.5571T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267622.4:p.Asn1857="
          },
          "RefSeq": {
            "hgvs": "NP_004230.2:p.Asn1857="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4717,
          "referenceAllele": "T",
          "start": 4716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "ENST00000554357.5:c.4717T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370578"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829489005",
      "coordinates": [
        {
          "allele": "C",
          "end": 5945,
          "referenceAllele": "T",
          "start": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "NM_004239.3:c.5571T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004230.2:p.Asn1857="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4345,
          "referenceAllele": "T",
          "start": 4344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_005268214.2:c.4245T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268271.1:p.Asn1415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065664"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2996,
          "referenceAllele": "T",
          "start": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_005268215.2:c.2541T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268272.1:p.Asn847="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6023,
          "referenceAllele": "T",
          "start": 6022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_006720321.2:c.5568T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720384.1:p.Asn1856="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827082464",
      "coordinates": [
        {
          "allele": "C",
          "end": 5942,
          "referenceAllele": "T",
          "start": 5941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "NM_001321851.1:c.5568T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308780.1:p.Asn1856="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514537"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829489005",
      "coordinates": [
        {
          "allele": "C",
          "end": 5945,
          "referenceAllele": "T",
          "start": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "NM_004239.4:c.5571T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004230.2:p.Asn1857="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267622.8:c.5571T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004239.4:c.5571T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267622.4:p.Asn1857="
          },
          "RefSeq": {
            "hgvs": "NP_004230.2:p.Asn1857="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5977,
          "referenceAllele": "T",
          "start": 5976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_017021787.2:c.4866T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877276.1:p.Asn1622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5817,
          "referenceAllele": "T",
          "start": 5816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_017021788.2:c.4245T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877277.1:p.Asn1415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572894"
    }
  ],
  "type": "nucleotide"
}