{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381546698",
  "communityStandardTitle": [
    "NM_003977.4(AIP):c.164C>T (p.Ala55Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1009883[alleleid]",
        "alleleId": 1009883,
        "preferredName": "NM_003977.4(AIP):c.164C>T (p.Ala55Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1022659",
        "RCV": [
          "RCV001322598",
          "RCV003469552",
          "RCV003284193"
        ],
        "variationId": 1022659
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.67254541C>T?assembly=hg19",
        "id": "chr11:g.67254541C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.67487070C>T?assembly=hg38",
        "id": "chr11:g.67487070C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1865805899",
        "rs": 1865805899
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-67487070-C-T?dataset=gnomad_r4",
        "id": "11-67487070-C-T",
        "variant": "11:67487070 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 67487070,
          "referenceAllele": "C",
          "start": 67487069
        }
      ],
      "hgvs": [
        "NC_000011.10:g.67487070C>T",
        "CM000673.2:g.67487070C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 67254541,
          "referenceAllele": "C",
          "start": 67254540
        }
      ],
      "hgvs": [
        "NC_000011.9:g.67254541C>T",
        "CM000673.1:g.67254541C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 67011117,
          "referenceAllele": "C",
          "start": 67011116
        }
      ],
      "hgvs": [
        "NC_000011.8:g.67011117C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9037,
          "referenceAllele": "C",
          "start": 9036
        }
      ],
      "hgvs": [
        "NG_008969.1:g.9037C>T",
        "LRG_460:g.9037C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001340"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 141,
          "referenceAllele": "C",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000525341.2:c.141C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000528641.7:c.164C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434982.3:p.Ala55Val",
        "hgvsWellDefined": "ENSP00000434982.3:p.Ala55Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000529797.2:n.94C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "C",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000682324.1:c.164C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508017.1:p.Ala55Val",
        "hgvsWellDefined": "ENSP00000508017.1:p.Ala55Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 103,
          "endIntronDirection": "-",
          "endIntronOffset": 2967,
          "referenceAllele": "C",
          "start": 103,
          "startIntronDirection": "-",
          "startIntronOffset": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000682659.1:c.100-2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507351.1:n.100-2968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000682699.1:c.164C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507935.1:p.Ala55Val",
        "hgvsWellDefined": "ENSP00000507935.1:p.Ala55Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "C",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000683237.1:c.164C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507343.1:p.Ala55Val",
        "hgvsWellDefined": "ENSP00000507343.1:p.Ala55Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "C",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000683856.1:c.-14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507979.1:n.-14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "C",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000684006.1:c.164C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507269.1:p.Ala55Val",
        "hgvsWellDefined": "ENSP00000507269.1:p.Ala55Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "endIntronDirection": "-",
          "endIntronOffset": 2196,
          "referenceAllele": "C",
          "start": 190,
          "startIntronDirection": "-",
          "startIntronOffset": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000684657.1:c.100-2197C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507961.1:n.100-2197C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 297,
          "referenceAllele": "C",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000279146.8:c.164C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000279146.3:p.Ala55Val",
        "hgvsWellDefined": "ENSP00000279146.3:p.Ala55Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000279146.8:c.164C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003977.4:c.164C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000279146.3:p.Ala55Val"
          },
          "RefSeq": {
            "hgvs": "NP_003968.3:p.Ala55Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000279146.7:c.164C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000279146.3:p.Ala55Val",
        "hgvsWellDefined": "ENSP00000279146.3:p.Ala55Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000528641.6:c.164C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434982.2:p.Ala55Val",
        "hgvsWellDefined": "ENSP00000434982.2:p.Ala55Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000529797.1:n.274C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "referenceAllele": "C",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302959.1:c.-14C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289888.1:n.-14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826875828",
      "coordinates": [
        {
          "allele": "T",
          "end": 294,
          "referenceAllele": "C",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302960.1:c.164C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289889.1:p.Ala55Val",
        "hgvsWellDefined": "NP_001289889.1:p.Ala55Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499265261",
      "coordinates": [
        {
          "allele": "T",
          "end": 294,
          "referenceAllele": "C",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_003977.3:c.164C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003968.3:p.Ala55Val",
        "hgvsWellDefined": "NP_003968.3:p.Ala55Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "C",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "XM_024448761.1:c.164C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304529.1:p.Ala55Val",
        "hgvsWellDefined": "XP_024304529.1:p.Ala55Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499265261",
      "coordinates": [
        {
          "allele": "T",
          "end": 297,
          "referenceAllele": "C",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_003977.4:c.164C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003968.3:p.Ala55Val",
        "hgvsWellDefined": "NP_003968.3:p.Ala55Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666271",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000279146.8:c.164C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003977.4:c.164C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000279146.3:p.Ala55Val"
          },
          "RefSeq": {
            "hgvs": "NP_003968.3:p.Ala55Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826875828",
      "coordinates": [
        {
          "allele": "T",
          "end": 297,
          "referenceAllele": "C",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302960.2:c.164C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289889.1:p.Ala55Val",
        "hgvsWellDefined": "NP_001289889.1:p.Ala55Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "referenceAllele": "C",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302959.2:c.-14C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289888.1:n.-14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717004"
    }
  ],
  "type": "nucleotide"
}