{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390645584",
  "communityStandardTitle": [
    "NM_004239.4(TRIP11):c.5057-1G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=433487",
        "active": true,
        "id": "COSM433487"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3130448[alleleid]",
        "alleleId": 3130448,
        "preferredName": "NM_004239.4(TRIP11):c.5057-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2975249",
        "RCV": [
          "RCV003830855"
        ],
        "variationId": 2975249
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.92460257C>T?assembly=hg19",
        "id": "chr14:g.92460257C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.91993913C>T?assembly=hg38",
        "id": "chr14:g.91993913C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2542999715",
        "rs": 2542999715
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-91993913-C-T?dataset=gnomad_r4",
        "id": "14-91993913-C-T",
        "variant": "14:91993913 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 91993913,
          "referenceAllele": "C",
          "start": 91993912
        }
      ],
      "hgvs": [
        "NC_000014.9:g.91993913C>T",
        "CM000676.2:g.91993913C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 92460257,
          "referenceAllele": "C",
          "start": 92460256
        }
      ],
      "hgvs": [
        "NC_000014.8:g.92460257C>T",
        "CM000676.1:g.92460257C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 91530010,
          "referenceAllele": "C",
          "start": 91530009
        }
      ],
      "hgvs": [
        "NC_000014.7:g.91530010C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 51147,
          "referenceAllele": "G",
          "start": 51146
        }
      ],
      "hgvs": [
        "NG_016970.1:g.51147G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003339"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5430,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 5430,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "ENST00000267622.8:c.5057-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267622.4:n.5057-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252010",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267622.8:c.5057-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004239.4:c.5057-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267622.4:n.5057-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004230.2:n.5057-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4202,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 4202,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "ENST00000554357.5:c.4203-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "ENST00000557017.1:c.305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451607.1:n.305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5430,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 5430,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "NM_004239.3:c.5057-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004230.2:n.5057-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3830,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3830,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_005268214.2:c.3731-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268271.1:n.3731-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2481,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2481,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_005268215.2:c.2027-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268272.1:n.2027-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5508,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 5508,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_006720321.2:c.5054-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720384.1:n.5054-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5347,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 5347,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_011537361.1:c.4893-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535663.1:n.4893-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5511,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 5511,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XR_943560.1:n.5512-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5427,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 5427,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "NM_001321851.1:c.5054-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308780.1:n.5054-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5430,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 5430,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "NM_004239.4:c.5057-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004230.2:n.5057-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267622.8:c.5057-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004239.4:c.5057-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267622.4:n.5057-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004230.2:n.5057-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5462,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 5462,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_017021787.2:c.4352-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877276.1:n.4352-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5302,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 5302,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_017021788.2:c.3731-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877277.1:n.3731-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5341,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 5341,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XR_001750598.2:n.5342-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5505,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 5505,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XR_943560.2:n.5506-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613445"
    }
  ],
  "type": "nucleotide"
}