{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338881873",
  "communityStandardTitle": [
    "NM_000478.6(ALPL):c.1292T>C (p.Val431Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1928375[alleleid]",
        "alleleId": 1928375,
        "preferredName": "NM_000478.6(ALPL):c.1292T>C (p.Val431Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2202725",
        "RCV": [
          "RCV002664154"
        ],
        "variationId": 2202725
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21903117T>C?assembly=hg19",
        "id": "chr1:g.21903117T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21576624T>C?assembly=hg38",
        "id": "chr1:g.21576624T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2545347691",
        "rs": 2545347691
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 21576624,
          "referenceAllele": "T",
          "start": 21576623
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21576624T>C",
        "CM000663.2:g.21576624T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 21903117,
          "referenceAllele": "T",
          "start": 21903116
        }
      ],
      "hgvs": [
        "NC_000001.10:g.21903117T>C",
        "CM000663.1:g.21903117T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 21775704,
          "referenceAllele": "T",
          "start": 21775703
        }
      ],
      "hgvs": [
        "NC_000001.9:g.21775704T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72260,
          "referenceAllele": "T",
          "start": 72259
        }
      ],
      "hgvs": [
        "NG_008940.1:g.72260T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001318"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1491,
          "referenceAllele": "T",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.8:c.1292T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Val431Ala",
        "hgvsWellDefined": "ENSP00000363973.3:p.Val431Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.1292T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.1292T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Val431Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Val431Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "T",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374829.2:n.561T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 367,
          "referenceAllele": "T",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374830.2:c.367T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1546,
          "referenceAllele": "T",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374832.5:c.1292T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363965.1:p.Val431Ala",
        "hgvsWellDefined": "ENSP00000363965.1:p.Val431Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1542,
          "referenceAllele": "T",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.7:c.1292T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Val431Ala",
        "hgvsWellDefined": "ENSP00000363973.3:p.Val431Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1207,
          "referenceAllele": "T",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000539907.5:c.1061T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437674.1:p.Val354Ala",
        "hgvsWellDefined": "ENSP00000437674.1:p.Val354Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1321,
          "referenceAllele": "T",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000540617.5:c.1127T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442672.1:p.Val376Ala",
        "hgvsWellDefined": "ENSP00000442672.1:p.Val376Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185879",
      "coordinates": [
        {
          "allele": "C",
          "end": 1549,
          "referenceAllele": "T",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.4:c.1292T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Val431Ala",
        "hgvsWellDefined": "NP_000469.3:p.Val431Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624119",
      "coordinates": [
        {
          "allele": "C",
          "end": 1384,
          "referenceAllele": "T",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.2:c.1127T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Val376Ala",
        "hgvsWellDefined": "NP_001120973.2:p.Val376Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119378",
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "referenceAllele": "T",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.1:c.1061T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Val354Ala",
        "hgvsWellDefined": "NP_001170991.1:p.Val354Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "T",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245818.1:c.1292T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245875.1:p.Val431Ala",
        "hgvsWellDefined": "XP_005245875.1:p.Val431Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1511,
          "referenceAllele": "T",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.1:c.1292T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Val431Ala",
        "hgvsWellDefined": "XP_006710609.1:p.Val431Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185879",
      "coordinates": [
        {
          "allele": "C",
          "end": 1556,
          "referenceAllele": "T",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.5:c.1292T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Val431Ala",
        "hgvsWellDefined": "NP_000469.3:p.Val431Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624119",
      "coordinates": [
        {
          "allele": "C",
          "end": 1391,
          "referenceAllele": "T",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.3:c.1127T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Val376Ala",
        "hgvsWellDefined": "NP_001120973.2:p.Val376Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119378",
      "coordinates": [
        {
          "allele": "C",
          "end": 1275,
          "referenceAllele": "T",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.2:c.1061T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Val354Ala",
        "hgvsWellDefined": "NP_001170991.1:p.Val354Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "referenceAllele": "T",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.3:c.1292T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Val431Ala",
        "hgvsWellDefined": "XP_006710609.1:p.Val431Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1136,
          "referenceAllele": "T",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_017000903.1:c.1136T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856392.1:p.Val379Ala",
        "hgvsWellDefined": "XP_016856392.1:p.Val379Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185879",
      "coordinates": [
        {
          "allele": "C",
          "end": 1491,
          "referenceAllele": "T",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.6:c.1292T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Val431Ala",
        "hgvsWellDefined": "NP_000469.3:p.Val431Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.1292T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.1292T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Val431Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Val431Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624119",
      "coordinates": [
        {
          "allele": "C",
          "end": 1326,
          "referenceAllele": "T",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.4:c.1127T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Val376Ala",
        "hgvsWellDefined": "NP_001120973.2:p.Val376Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119378",
      "coordinates": [
        {
          "allele": "C",
          "end": 1210,
          "referenceAllele": "T",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.3:c.1061T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Val354Ala",
        "hgvsWellDefined": "NP_001170991.1:p.Val354Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828362658",
      "coordinates": [
        {
          "allele": "C",
          "end": 1555,
          "referenceAllele": "T",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369803.2:c.1292T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356732.1:p.Val431Ala",
        "hgvsWellDefined": "NP_001356732.1:p.Val431Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828363398",
      "coordinates": [
        {
          "allele": "C",
          "end": 1489,
          "referenceAllele": "T",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369804.2:c.1292T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356733.1:p.Val431Ala",
        "hgvsWellDefined": "NP_001356733.1:p.Val431Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580230212",
      "coordinates": [
        {
          "allele": "C",
          "end": 1524,
          "referenceAllele": "T",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369805.2:c.1292T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356734.1:p.Val431Ala",
        "hgvsWellDefined": "NP_001356734.1:p.Val431Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691987"
    }
  ],
  "type": "nucleotide"
}