{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6140987",
  "communityStandardTitle": [
    "NM_003977.4(AIP):c.827C>T (p.Ala276Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=476355[alleleid]",
        "alleleId": 476355,
        "preferredName": "NM_003977.4(AIP):c.827C>T (p.Ala276Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/485056",
        "RCV": [
          "RCV000573085",
          "RCV000765006",
          "RCV001202575",
          "RCV003465251"
        ],
        "variationId": 485056
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-67258298-C-T",
        "id": "11-67258298-C-T",
        "variant": "11:67258298 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.67258298C>T?assembly=hg19",
        "id": "chr11:g.67258298C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.67490827C>T?assembly=hg38",
        "id": "chr11:g.67490827C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61741147",
        "rs": 61741147
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-67258298-C-T?dataset=gnomad_r2_1",
        "id": "11-67258298-C-T",
        "variant": "11:67258298 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-67490827-C-T?dataset=gnomad_r3",
        "id": "11-67490827-C-T",
        "variant": "11:67490827 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-67490827-C-T?dataset=gnomad_r4",
        "id": "11-67490827-C-T",
        "variant": "11:67490827 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 67490827,
          "referenceAllele": "C",
          "start": 67490826
        }
      ],
      "hgvs": [
        "NC_000011.10:g.67490827C>T",
        "CM000673.2:g.67490827C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 67258298,
          "referenceAllele": "C",
          "start": 67258297
        }
      ],
      "hgvs": [
        "NC_000011.9:g.67258298C>T",
        "CM000673.1:g.67258298C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 67014874,
          "referenceAllele": "C",
          "start": 67014873
        }
      ],
      "hgvs": [
        "NC_000011.8:g.67014874C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12794,
          "referenceAllele": "C",
          "start": 12793
        }
      ],
      "hgvs": [
        "NG_008969.1:g.12794C>T",
        "LRG_460:g.12794C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001340"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000525341.2:c.1134C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000528641.7:c.638C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434982.3:p.Ala213Val",
        "hgvsWellDefined": "ENSP00000434982.3:p.Ala213Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1669,
          "referenceAllele": "C",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000529797.2:n.1669C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "endIntronDirection": "-",
          "endIntronOffset": 169,
          "referenceAllele": "C",
          "start": 559,
          "startIntronDirection": "-",
          "startIntronOffset": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000682324.1:c.469-170C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508017.1:n.469-170C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000682659.1:c.458C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507351.1:p.Ala153Val",
        "hgvsWellDefined": "ENSP00000507351.1:p.Ala153Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1499,
          "referenceAllele": "C",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000682699.1:c.827C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507935.1:p.Ala276Val",
        "hgvsWellDefined": "ENSP00000507935.1:p.Ala276Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000683237.1:c.819C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507343.1:p.Arg273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "referenceAllele": "C",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000683856.1:c.650C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507979.1:p.Ala217Val",
        "hgvsWellDefined": "ENSP00000507979.1:p.Ala217Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000684006.1:c.816C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507269.1:p.Arg272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "referenceAllele": "C",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000684657.1:c.647C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507961.1:p.Ala216Val",
        "hgvsWellDefined": "ENSP00000507961.1:p.Ala216Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000279146.8:c.827C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000279146.3:p.Ala276Val",
        "hgvsWellDefined": "ENSP00000279146.3:p.Ala276Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000279146.8:c.827C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003977.4:c.827C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000279146.3:p.Ala276Val"
          },
          "RefSeq": {
            "hgvs": "NP_003968.3:p.Ala276Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000279146.7:c.827C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000279146.3:p.Ala276Val",
        "hgvsWellDefined": "ENSP00000279146.3:p.Ala276Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000528641.6:c.638C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434982.2:p.Ala213Val",
        "hgvsWellDefined": "ENSP00000434982.2:p.Ala213Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826875563",
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302959.1:c.650C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289888.1:p.Ala217Val",
        "hgvsWellDefined": "NP_001289888.1:p.Ala217Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826876273",
      "coordinates": [
        {
          "allele": "T",
          "end": 949,
          "referenceAllele": "C",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302960.1:c.819C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289889.1:p.Arg273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829477860",
      "coordinates": [
        {
          "allele": "T",
          "end": 957,
          "referenceAllele": "C",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_003977.3:c.827C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003968.3:p.Ala276Val",
        "hgvsWellDefined": "NP_003968.3:p.Ala276Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1276,
          "referenceAllele": "C",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "XM_024448761.1:c.827C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304529.1:p.Ala276Val",
        "hgvsWellDefined": "XP_024304529.1:p.Ala276Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829477860",
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_003977.4:c.827C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003968.3:p.Ala276Val",
        "hgvsWellDefined": "NP_003968.3:p.Ala276Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666271",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000279146.8:c.827C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003977.4:c.827C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000279146.3:p.Ala276Val"
          },
          "RefSeq": {
            "hgvs": "NP_003968.3:p.Ala276Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826876273",
      "coordinates": [
        {
          "allele": "T",
          "end": 952,
          "referenceAllele": "C",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302960.2:c.819C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289889.1:p.Arg273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683502"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826875563",
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302959.2:c.650C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289888.1:p.Ala217Val",
        "hgvsWellDefined": "NP_001289888.1:p.Ala217Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717004"
    }
  ],
  "type": "nucleotide"
}