{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338881767",
  "communityStandardTitle": [
    "NM_000478.6(ALPL):c.1243T>G (p.Tyr415Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1336244[alleleid]",
        "alleleId": 1336244,
        "preferredName": "NM_000478.6(ALPL):c.1243T>G (p.Tyr415Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1344541",
        "RCV": [
          "RCV001848631"
        ],
        "variationId": 1344541
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21903068T>G?assembly=hg19",
        "id": "chr1:g.21903068T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21576575T>G?assembly=hg38",
        "id": "chr1:g.21576575T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2148192455",
        "rs": 2148192455
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 21576575,
          "referenceAllele": "T",
          "start": 21576574
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21576575T>G",
        "CM000663.2:g.21576575T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 21903068,
          "referenceAllele": "T",
          "start": 21903067
        }
      ],
      "hgvs": [
        "NC_000001.10:g.21903068T>G",
        "CM000663.1:g.21903068T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 21775655,
          "referenceAllele": "T",
          "start": 21775654
        }
      ],
      "hgvs": [
        "NC_000001.9:g.21775655T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 72211,
          "referenceAllele": "T",
          "start": 72210
        }
      ],
      "hgvs": [
        "NG_008940.1:g.72211T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001318"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1442,
          "referenceAllele": "T",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.8:c.1243T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Tyr415Asp",
        "hgvsWellDefined": "ENSP00000363973.3:p.Tyr415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.1243T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.1243T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Tyr415Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Tyr415Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 512,
          "referenceAllele": "T",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374829.2:n.512T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 318,
          "referenceAllele": "T",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374830.2:c.318T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1497,
          "referenceAllele": "T",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374832.5:c.1243T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363965.1:p.Tyr415Asp",
        "hgvsWellDefined": "ENSP00000363965.1:p.Tyr415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1493,
          "referenceAllele": "T",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.7:c.1243T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Tyr415Asp",
        "hgvsWellDefined": "ENSP00000363973.3:p.Tyr415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1158,
          "referenceAllele": "T",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000539907.5:c.1012T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437674.1:p.Tyr338Asp",
        "hgvsWellDefined": "ENSP00000437674.1:p.Tyr338Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1272,
          "referenceAllele": "T",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000540617.5:c.1078T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442672.1:p.Tyr360Asp",
        "hgvsWellDefined": "ENSP00000442672.1:p.Tyr360Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185840",
      "coordinates": [
        {
          "allele": "G",
          "end": 1500,
          "referenceAllele": "T",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.4:c.1243T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Tyr415Asp",
        "hgvsWellDefined": "NP_000469.3:p.Tyr415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624060",
      "coordinates": [
        {
          "allele": "G",
          "end": 1335,
          "referenceAllele": "T",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.2:c.1078T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Tyr360Asp",
        "hgvsWellDefined": "NP_001120973.2:p.Tyr360Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119334",
      "coordinates": [
        {
          "allele": "G",
          "end": 1219,
          "referenceAllele": "T",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.1:c.1012T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Tyr338Asp",
        "hgvsWellDefined": "NP_001170991.1:p.Tyr338Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "referenceAllele": "T",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245818.1:c.1243T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245875.1:p.Tyr415Asp",
        "hgvsWellDefined": "XP_005245875.1:p.Tyr415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1462,
          "referenceAllele": "T",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.1:c.1243T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Tyr415Asp",
        "hgvsWellDefined": "XP_006710609.1:p.Tyr415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185840",
      "coordinates": [
        {
          "allele": "G",
          "end": 1507,
          "referenceAllele": "T",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.5:c.1243T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Tyr415Asp",
        "hgvsWellDefined": "NP_000469.3:p.Tyr415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624060",
      "coordinates": [
        {
          "allele": "G",
          "end": 1342,
          "referenceAllele": "T",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.3:c.1078T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Tyr360Asp",
        "hgvsWellDefined": "NP_001120973.2:p.Tyr360Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119334",
      "coordinates": [
        {
          "allele": "G",
          "end": 1226,
          "referenceAllele": "T",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.2:c.1012T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Tyr338Asp",
        "hgvsWellDefined": "NP_001170991.1:p.Tyr338Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1456,
          "referenceAllele": "T",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.3:c.1243T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Tyr415Asp",
        "hgvsWellDefined": "XP_006710609.1:p.Tyr415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1087,
          "referenceAllele": "T",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_017000903.1:c.1087T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856392.1:p.Tyr363Asp",
        "hgvsWellDefined": "XP_016856392.1:p.Tyr363Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185840",
      "coordinates": [
        {
          "allele": "G",
          "end": 1442,
          "referenceAllele": "T",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.6:c.1243T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Tyr415Asp",
        "hgvsWellDefined": "NP_000469.3:p.Tyr415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.1243T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.1243T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Tyr415Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Tyr415Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624060",
      "coordinates": [
        {
          "allele": "G",
          "end": 1277,
          "referenceAllele": "T",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.4:c.1078T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Tyr360Asp",
        "hgvsWellDefined": "NP_001120973.2:p.Tyr360Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119334",
      "coordinates": [
        {
          "allele": "G",
          "end": 1161,
          "referenceAllele": "T",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.3:c.1012T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Tyr338Asp",
        "hgvsWellDefined": "NP_001170991.1:p.Tyr338Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828362629",
      "coordinates": [
        {
          "allele": "G",
          "end": 1506,
          "referenceAllele": "T",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369803.2:c.1243T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356732.1:p.Tyr415Asp",
        "hgvsWellDefined": "NP_001356732.1:p.Tyr415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828363368",
      "coordinates": [
        {
          "allele": "G",
          "end": 1440,
          "referenceAllele": "T",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369804.2:c.1243T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356733.1:p.Tyr415Asp",
        "hgvsWellDefined": "NP_001356733.1:p.Tyr415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573072223",
      "coordinates": [
        {
          "allele": "G",
          "end": 1475,
          "referenceAllele": "T",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369805.2:c.1243T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356734.1:p.Tyr415Asp",
        "hgvsWellDefined": "NP_001356734.1:p.Tyr415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691987"
    }
  ],
  "type": "nucleotide"
}