{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338881641",
  "communityStandardTitle": [
    "NM_000478.6(ALPL):c.1196C>T (p.Ala399Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2832977[alleleid]",
        "alleleId": 2832977,
        "preferredName": "NM_000478.6(ALPL):c.1196C>T (p.Ala399Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676678",
        "RCV": [
          "RCV003470190"
        ],
        "variationId": 2676678
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21903021C>T?assembly=hg19",
        "id": "chr1:g.21903021C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21576528C>T?assembly=hg38",
        "id": "chr1:g.21576528C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1394896229",
        "rs": 1394896229
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21903021-C-T?dataset=gnomad_r2_1",
        "id": "1-21903021-C-T",
        "variant": "1:21903021 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21576528-C-T?dataset=gnomad_r3",
        "id": "1-21576528-C-T",
        "variant": "1:21576528 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21576528-C-T?dataset=gnomad_r4",
        "id": "1-21576528-C-T",
        "variant": "1:21576528 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21576528,
          "referenceAllele": "C",
          "start": 21576527
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21576528C>T",
        "CM000663.2:g.21576528C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21903021,
          "referenceAllele": "C",
          "start": 21903020
        }
      ],
      "hgvs": [
        "NC_000001.10:g.21903021C>T",
        "CM000663.1:g.21903021C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21775608,
          "referenceAllele": "C",
          "start": 21775607
        }
      ],
      "hgvs": [
        "NC_000001.9:g.21775608C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72164,
          "referenceAllele": "C",
          "start": 72163
        }
      ],
      "hgvs": [
        "NG_008940.1:g.72164C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001318"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1395,
          "referenceAllele": "C",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.8:c.1196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Ala399Val",
        "hgvsWellDefined": "ENSP00000363973.3:p.Ala399Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.1196C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.1196C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Ala399Val"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Ala399Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 465,
          "referenceAllele": "C",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374829.2:n.465C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "referenceAllele": "C",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374830.2:c.271C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1450,
          "referenceAllele": "C",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374832.5:c.1196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363965.1:p.Ala399Val",
        "hgvsWellDefined": "ENSP00000363965.1:p.Ala399Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1446,
          "referenceAllele": "C",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.7:c.1196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Ala399Val",
        "hgvsWellDefined": "ENSP00000363973.3:p.Ala399Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1111,
          "referenceAllele": "C",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000539907.5:c.965C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437674.1:p.Ala322Val",
        "hgvsWellDefined": "ENSP00000437674.1:p.Ala322Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000540617.5:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442672.1:p.Ala344Val",
        "hgvsWellDefined": "ENSP00000442672.1:p.Ala344Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185795",
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "C",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.4:c.1196C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Ala399Val",
        "hgvsWellDefined": "NP_000469.3:p.Ala399Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624000",
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.2:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Ala344Val",
        "hgvsWellDefined": "NP_001120973.2:p.Ala344Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119305",
      "coordinates": [
        {
          "allele": "T",
          "end": 1172,
          "referenceAllele": "C",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.1:c.965C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Ala322Val",
        "hgvsWellDefined": "NP_001170991.1:p.Ala322Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1430,
          "referenceAllele": "C",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245818.1:c.1196C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245875.1:p.Ala399Val",
        "hgvsWellDefined": "XP_005245875.1:p.Ala399Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1415,
          "referenceAllele": "C",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.1:c.1196C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Ala399Val",
        "hgvsWellDefined": "XP_006710609.1:p.Ala399Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185795",
      "coordinates": [
        {
          "allele": "T",
          "end": 1460,
          "referenceAllele": "C",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.5:c.1196C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Ala399Val",
        "hgvsWellDefined": "NP_000469.3:p.Ala399Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624000",
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "C",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.3:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Ala344Val",
        "hgvsWellDefined": "NP_001120973.2:p.Ala344Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119305",
      "coordinates": [
        {
          "allele": "T",
          "end": 1179,
          "referenceAllele": "C",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.2:c.965C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Ala322Val",
        "hgvsWellDefined": "NP_001170991.1:p.Ala322Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.3:c.1196C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Ala399Val",
        "hgvsWellDefined": "XP_006710609.1:p.Ala399Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1040,
          "referenceAllele": "C",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_017000903.1:c.1040C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856392.1:p.Ala347Val",
        "hgvsWellDefined": "XP_016856392.1:p.Ala347Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185795",
      "coordinates": [
        {
          "allele": "T",
          "end": 1395,
          "referenceAllele": "C",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.6:c.1196C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Ala399Val",
        "hgvsWellDefined": "NP_000469.3:p.Ala399Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.1196C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.1196C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Ala399Val"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Ala399Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624000",
      "coordinates": [
        {
          "allele": "T",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.4:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Ala344Val",
        "hgvsWellDefined": "NP_001120973.2:p.Ala344Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119305",
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.3:c.965C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Ala322Val",
        "hgvsWellDefined": "NP_001170991.1:p.Ala322Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828362607",
      "coordinates": [
        {
          "allele": "T",
          "end": 1459,
          "referenceAllele": "C",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369803.2:c.1196C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356732.1:p.Ala399Val",
        "hgvsWellDefined": "NP_001356732.1:p.Ala399Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828363346",
      "coordinates": [
        {
          "allele": "T",
          "end": 1393,
          "referenceAllele": "C",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369804.2:c.1196C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356733.1:p.Ala399Val",
        "hgvsWellDefined": "NP_001356733.1:p.Ala399Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741874128",
      "coordinates": [
        {
          "allele": "T",
          "end": 1428,
          "referenceAllele": "C",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369805.2:c.1196C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356734.1:p.Ala399Val",
        "hgvsWellDefined": "NP_001356734.1:p.Ala399Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691987"
    }
  ],
  "type": "nucleotide"
}