{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1593595",
  "communityStandardTitle": [
    "NM_004304.5(ALK):c.4340C>T (p.Thr1447Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=942843[alleleid]",
        "alleleId": 942843,
        "preferredName": "NM_004304.5(ALK):c.4340C>T (p.Thr1447Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/955779",
        "RCV": [
          "RCV001228482",
          "RCV004032636"
        ],
        "variationId": 955779
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-29416613-G-A",
        "id": "2-29416613-G-A",
        "variant": "2:29416613 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29416613G>A?assembly=hg19",
        "id": "chr2:g.29416613G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29193747G>A?assembly=hg38",
        "id": "chr2:g.29193747G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/554599505",
        "rs": 554599505
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29416613-G-A?dataset=gnomad_r2_1",
        "id": "2-29416613-G-A",
        "variant": "2:29416613 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29193747-G-A?dataset=gnomad_r3",
        "id": "2-29193747-G-A",
        "variant": "2:29193747 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29193747-G-A?dataset=gnomad_r4",
        "id": "2-29193747-G-A",
        "variant": "2:29193747 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29193747,
          "referenceAllele": "G",
          "start": 29193746
        }
      ],
      "hgvs": [
        "NC_000002.12:g.29193747G>A",
        "CM000664.2:g.29193747G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29416613,
          "referenceAllele": "G",
          "start": 29416612
        }
      ],
      "hgvs": [
        "NC_000002.11:g.29416613G>A",
        "CM000664.1:g.29416613G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29270117,
          "referenceAllele": "G",
          "start": 29270116
        }
      ],
      "hgvs": [
        "NC_000002.10:g.29270117G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 732820,
          "referenceAllele": "C",
          "start": 732819
        }
      ],
      "hgvs": [
        "NG_009445.1:g.732820C>T",
        "LRG_488:g.732820C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2113,
          "endIntronDirection": "-",
          "endIntronOffset": 3180,
          "referenceAllele": "G",
          "start": 2113,
          "startIntronDirection": "-",
          "startIntronOffset": 3181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026108",
      "geneNCBI_id": 79745,
      "geneSymbol": "CLIP4",
      "hgvs": [
        "ENST00000689605.1:c.1923-3181G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508948.1:n.1923-3181G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5267,
          "referenceAllele": "C",
          "start": 5266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.8:c.4340C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Thr1447Ile",
        "hgvsWellDefined": "ENSP00000373700.3:p.Thr1447Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.4340C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.4340C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Thr1447Ile"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Thr1447Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1567,
          "referenceAllele": "C",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000431873.6:c.1567C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1217,
          "referenceAllele": "C",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000638605.1:n.1217C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000642122.1:c.1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493203.1:p.Thr379Ile",
        "hgvsWellDefined": "ENSP00000493203.1:p.Thr379Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5247,
          "referenceAllele": "C",
          "start": 5246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.7:c.4340C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Thr1447Ile",
        "hgvsWellDefined": "ENSP00000373700.3:p.Thr1447Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1220,
          "referenceAllele": "C",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000431873.5:c.1220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414027.2:p.Thr407Ile",
        "hgvsWellDefined": "ENSP00000414027.2:p.Thr407Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3676,
          "referenceAllele": "C",
          "start": 3675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000618119.4:c.3209C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482733.1:p.Thr1070Ile",
        "hgvsWellDefined": "ENSP00000482733.1:p.Thr1070Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829523247",
      "coordinates": [
        {
          "allele": "T",
          "end": 5292,
          "referenceAllele": "C",
          "start": 5291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.4:c.4340C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Thr1447Ile",
        "hgvsWellDefined": "NP_004295.2:p.Thr1447Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139739428",
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_001353765.1:c.1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340694.1:p.Thr379Ile",
        "hgvsWellDefined": "NP_001340694.1:p.Thr379Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1662,
          "referenceAllele": "C",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XM_024452778.1:c.1493C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308546.1:p.Thr498Ile",
        "hgvsWellDefined": "XP_024308546.1:p.Thr498Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2398,
          "referenceAllele": "C",
          "start": 2397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XM_024452779.1:c.1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308547.1:p.Thr379Ile",
        "hgvsWellDefined": "XP_024308547.1:p.Thr379Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829523247",
      "coordinates": [
        {
          "allele": "T",
          "end": 5267,
          "referenceAllele": "C",
          "start": 5266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.5:c.4340C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Thr1447Ile",
        "hgvsWellDefined": "NP_004295.2:p.Thr1447Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.4340C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.4340C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Thr1447Ile"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Thr1447Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139739428",
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_001353765.2:c.1136C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340694.1:p.Thr379Ile",
        "hgvsWellDefined": "NP_001340694.1:p.Thr379Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720293"
    }
  ],
  "type": "nucleotide"
}