{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7313846",
  "communityStandardTitle": [
    "NM_004239.4(TRIP11):c.2004A>T (p.Leu668Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1048737[alleleid]",
        "alleleId": 1048737,
        "preferredName": "NM_004239.4(TRIP11):c.2004A>T (p.Leu668Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1051651",
        "RCV": [
          "RCV001359719"
        ],
        "variationId": 1051651
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-92472316-T-A",
        "id": "14-92472316-T-A",
        "variant": "14:92472316 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.92472316T>A?assembly=hg19",
        "id": "chr14:g.92472316T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.92005972T>A?assembly=hg38",
        "id": "chr14:g.92005972T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762335316",
        "rs": 762335316
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-92472316-T-A?dataset=gnomad_r2_1",
        "id": "14-92472316-T-A",
        "variant": "14:92472316 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-92005972-T-A?dataset=gnomad_r4",
        "id": "14-92005972-T-A",
        "variant": "14:92005972 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 92005972,
          "referenceAllele": "T",
          "start": 92005971
        }
      ],
      "hgvs": [
        "NC_000014.9:g.92005972T>A",
        "CM000676.2:g.92005972T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 92472316,
          "referenceAllele": "T",
          "start": 92472315
        }
      ],
      "hgvs": [
        "NC_000014.8:g.92472316T>A",
        "CM000676.1:g.92472316T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 91542069,
          "referenceAllele": "T",
          "start": 91542068
        }
      ],
      "hgvs": [
        "NC_000014.7:g.91542069T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39088,
          "referenceAllele": "A",
          "start": 39087
        }
      ],
      "hgvs": [
        "NG_016970.1:g.39088A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003339"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2378,
          "referenceAllele": "A",
          "start": 2377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "ENST00000267622.8:c.2004A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267622.4:p.Leu668Phe",
        "hgvsWellDefined": "ENSP00000267622.4:p.Leu668Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252010",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267622.8:c.2004A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004239.4:c.2004A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267622.4:p.Leu668Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004230.2:p.Leu668Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1150,
          "referenceAllele": "A",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "ENST00000554357.5:c.1150A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370578"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499266200",
      "coordinates": [
        {
          "allele": "T",
          "end": 2378,
          "referenceAllele": "A",
          "start": 2377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "NM_004239.3:c.2004A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004230.2:p.Leu668Phe",
        "hgvsWellDefined": "NP_004230.2:p.Leu668Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_005268214.2:c.678A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268271.1:p.Leu226Phe",
        "hgvsWellDefined": "XP_005268271.1:p.Leu226Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "endIntronDirection": "+",
          "endIntronOffset": 1668,
          "referenceAllele": "A",
          "start": 1982,
          "startIntronDirection": "+",
          "startIntronOffset": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_005268215.2:c.1527+1668A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268272.1:n.1527+1668A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "referenceAllele": "A",
          "start": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_006720321.2:c.2001A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720384.1:p.Leu667Phe",
        "hgvsWellDefined": "XP_006720384.1:p.Leu667Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "referenceAllele": "A",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_011537361.1:c.2004A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535663.1:p.Leu668Phe",
        "hgvsWellDefined": "XP_011535663.1:p.Leu668Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "referenceAllele": "A",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XR_943560.1:n.2459A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827081856",
      "coordinates": [
        {
          "allele": "T",
          "end": 2375,
          "referenceAllele": "A",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "NM_001321851.1:c.2001A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308780.1:p.Leu667Phe",
        "hgvsWellDefined": "NP_001308780.1:p.Leu667Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514537"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499266200",
      "coordinates": [
        {
          "allele": "T",
          "end": 2378,
          "referenceAllele": "A",
          "start": 2377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "NM_004239.4:c.2004A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004230.2:p.Leu668Phe",
        "hgvsWellDefined": "NP_004230.2:p.Leu668Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267622.8:c.2004A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004239.4:c.2004A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267622.4:p.Leu668Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004230.2:p.Leu668Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2410,
          "referenceAllele": "A",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_017021787.2:c.1299A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877276.1:p.Leu433Phe",
        "hgvsWellDefined": "XP_016877276.1:p.Leu433Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2250,
          "referenceAllele": "A",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_017021788.2:c.678A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877277.1:p.Leu226Phe",
        "hgvsWellDefined": "XP_016877277.1:p.Leu226Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2453,
          "referenceAllele": "A",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XR_001750598.2:n.2453A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2453,
          "referenceAllele": "A",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XR_943560.2:n.2453A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613445"
    }
  ],
  "type": "nucleotide"
}