{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7516869",
  "communityStandardTitle": [
    "NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=340532[alleleid]",
        "alleleId": 340532,
        "preferredName": "NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/315992",
        "RCV": [
          "RCV000379173",
          "RCV000518308",
          "RCV000658708",
          "RCV002522789",
          "RCV003969883"
        ],
        "variationId": 315992
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-43067776-C-G",
        "id": "15-43067776-C-G",
        "variant": "15:43067776 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43067776C>G?assembly=hg19",
        "id": "chr15:g.43067776C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42775578C>G?assembly=hg38",
        "id": "chr15:g.42775578C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200124857",
        "rs": 200124857
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-43067776-C-G?dataset=gnomad_r2_1",
        "id": "15-43067776-C-G",
        "variant": "15:43067776 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-42775578-C-G?dataset=gnomad_r3",
        "id": "15-42775578-C-G",
        "variant": "15:42775578 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-42775578-C-G?dataset=gnomad_r4",
        "id": "15-42775578-C-G",
        "variant": "15:42775578 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 42775578,
          "referenceAllele": "C",
          "start": 42775577
        }
      ],
      "hgvs": [
        "NC_000015.10:g.42775578C>G",
        "CM000677.2:g.42775578C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 43067776,
          "referenceAllele": "C",
          "start": 43067775
        }
      ],
      "hgvs": [
        "NC_000015.9:g.43067776C>G",
        "CM000677.1:g.43067776C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 40855068,
          "referenceAllele": "C",
          "start": 40855067
        }
      ],
      "hgvs": [
        "NC_000015.8:g.40855068C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 150232,
          "referenceAllele": "G",
          "start": 150231
        }
      ],
      "hgvs": [
        "NG_012664.1:g.150232G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002512"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1963,
          "referenceAllele": "G",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "ENST00000267890.11:c.1555G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267890.6:p.Ala519Pro",
        "hgvsWellDefined": "ENSP00000267890.6:p.Ala519Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267890.11:c.1555G>C"
          },
          "RefSeq": {
            "hgvs": "NM_173500.4:c.1555G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267890.6:p.Ala519Pro"
          },
          "RefSeq": {
            "hgvs": "NP_775771.3:p.Ala519Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1664,
          "referenceAllele": "G",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "ENST00000267890.10:c.1555G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267890.6:p.Ala519Pro",
        "hgvsWellDefined": "ENSP00000267890.6:p.Ala519Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3268,
          "referenceAllele": "G",
          "start": 3267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "ENST00000622375.4:c.2770G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479984.1:p.Ala924Pro",
        "hgvsWellDefined": "ENSP00000479984.1:p.Ala924Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645374949",
      "coordinates": [
        {
          "allele": "C",
          "end": 1994,
          "referenceAllele": "G",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "NM_173500.3:c.1555G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775771.3:p.Ala519Pro",
        "hgvsWellDefined": "NP_775771.3:p.Ala519Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2127,
          "referenceAllele": "G",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_005254171.3:c.1573G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254228.1:p.Ala525Pro",
        "hgvsWellDefined": "XP_005254228.1:p.Ala525Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1843,
          "referenceAllele": "G",
          "start": 1842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_005254173.3:c.1348G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254230.1:p.Ala450Pro",
        "hgvsWellDefined": "XP_005254230.1:p.Ala450Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1615,
          "referenceAllele": "G",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_006720402.2:c.1540G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720465.1:p.Ala514Pro",
        "hgvsWellDefined": "XP_006720465.1:p.Ala514Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1599,
          "referenceAllele": "G",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_006720403.2:c.1348G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720466.1:p.Ala450Pro",
        "hgvsWellDefined": "XP_006720466.1:p.Ala450Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1617,
          "referenceAllele": "G",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_011521267.1:c.1348G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519569.1:p.Ala450Pro",
        "hgvsWellDefined": "XP_011519569.1:p.Ala450Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1843,
          "referenceAllele": "G",
          "start": 1842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_011521268.1:c.1288G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519570.1:p.Ala430Pro",
        "hgvsWellDefined": "XP_011519570.1:p.Ala430Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088429"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1359,
          "referenceAllele": "G",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_011521269.1:c.1276G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519571.1:p.Ala426Pro",
        "hgvsWellDefined": "XP_011519571.1:p.Ala426Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088430"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2527,
          "referenceAllele": "G",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_005254171.5:c.1573G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254228.1:p.Ala525Pro",
        "hgvsWellDefined": "XP_005254228.1:p.Ala525Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1876,
          "referenceAllele": "G",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_005254173.5:c.1348G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254230.1:p.Ala450Pro",
        "hgvsWellDefined": "XP_005254230.1:p.Ala450Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534079"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_006720402.4:c.1540G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720465.1:p.Ala514Pro",
        "hgvsWellDefined": "XP_006720465.1:p.Ala514Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1770,
          "referenceAllele": "G",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_006720403.4:c.1348G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720466.1:p.Ala450Pro",
        "hgvsWellDefined": "XP_006720466.1:p.Ala450Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1619,
          "referenceAllele": "G",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_017021950.2:c.1276G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877439.1:p.Ala426Pro",
        "hgvsWellDefined": "XP_016877439.1:p.Ala426Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2674,
          "referenceAllele": "G",
          "start": 2673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_024449849.1:c.1555G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305617.1:p.Ala519Pro",
        "hgvsWellDefined": "XP_024305617.1:p.Ala519Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1751,
          "referenceAllele": "G",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_024449850.1:c.1555G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305618.1:p.Ala519Pro",
        "hgvsWellDefined": "XP_024305618.1:p.Ala519Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3161,
          "referenceAllele": "G",
          "start": 3160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_024449851.1:c.1348G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305619.1:p.Ala450Pro",
        "hgvsWellDefined": "XP_024305619.1:p.Ala450Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645374949",
      "coordinates": [
        {
          "allele": "C",
          "end": 1963,
          "referenceAllele": "G",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "NM_173500.4:c.1555G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775771.3:p.Ala519Pro",
        "hgvsWellDefined": "NP_775771.3:p.Ala519Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672645",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267890.11:c.1555G>C"
          },
          "RefSeq": {
            "hgvs": "NM_173500.4:c.1555G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267890.6:p.Ala519Pro"
          },
          "RefSeq": {
            "hgvs": "NP_775771.3:p.Ala519Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}