{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338881075",
  "communityStandardTitle": [
    "NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=540861[alleleid]",
        "alleleId": 540861,
        "preferredName": "NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/555880",
        "RCV": [
          "RCV001378583",
          "RCV000671791",
          "RCV002265850",
          "RCV004547844",
          "RCV003465511"
        ],
        "variationId": 555880
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21902270G>A?assembly=hg19",
        "id": "chr1:g.21902270G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21575777G>A?assembly=hg38",
        "id": "chr1:g.21575777G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553414563",
        "rs": 1553414563
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21575777,
          "referenceAllele": "G",
          "start": 21575776
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21575777G>A",
        "CM000663.2:g.21575777G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21902270,
          "referenceAllele": "G",
          "start": 21902269
        }
      ],
      "hgvs": [
        "NC_000001.10:g.21902270G>A",
        "CM000663.1:g.21902270G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21774857,
          "referenceAllele": "G",
          "start": 21774856
        }
      ],
      "hgvs": [
        "NC_000001.9:g.21774857G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71413,
          "referenceAllele": "G",
          "start": 71412
        }
      ],
      "hgvs": [
        "NG_008940.1:g.71413G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001318"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1241,
          "referenceAllele": "G",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.8:c.1042G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Ala348Thr",
        "hgvsWellDefined": "ENSP00000363973.3:p.Ala348Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.1042G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.1042G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Ala348Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Ala348Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 311,
          "referenceAllele": "G",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374829.2:n.311G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 117,
          "referenceAllele": "G",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374830.2:c.117G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1296,
          "referenceAllele": "G",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374832.5:c.1042G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363965.1:p.Ala348Thr",
        "hgvsWellDefined": "ENSP00000363965.1:p.Ala348Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1292,
          "referenceAllele": "G",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.7:c.1042G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Ala348Thr",
        "hgvsWellDefined": "ENSP00000363973.3:p.Ala348Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 957,
          "referenceAllele": "G",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000539907.5:c.811G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437674.1:p.Ala271Thr",
        "hgvsWellDefined": "ENSP00000437674.1:p.Ala271Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000540617.5:c.877G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442672.1:p.Ala293Thr",
        "hgvsWellDefined": "ENSP00000442672.1:p.Ala293Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112580",
      "coordinates": [
        {
          "allele": "A",
          "end": 1299,
          "referenceAllele": "G",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.4:c.1042G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Ala348Thr",
        "hgvsWellDefined": "NP_000469.3:p.Ala348Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825623789",
      "coordinates": [
        {
          "allele": "A",
          "end": 1134,
          "referenceAllele": "G",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.2:c.877G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Ala293Thr",
        "hgvsWellDefined": "NP_001120973.2:p.Ala293Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119176",
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "referenceAllele": "G",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.1:c.811G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Ala271Thr",
        "hgvsWellDefined": "NP_001170991.1:p.Ala271Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015742"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1276,
          "referenceAllele": "G",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245818.1:c.1042G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245875.1:p.Ala348Thr",
        "hgvsWellDefined": "XP_005245875.1:p.Ala348Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.1:c.1042G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Ala348Thr",
        "hgvsWellDefined": "XP_006710609.1:p.Ala348Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112580",
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.5:c.1042G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Ala348Thr",
        "hgvsWellDefined": "NP_000469.3:p.Ala348Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825623789",
      "coordinates": [
        {
          "allele": "A",
          "end": 1141,
          "referenceAllele": "G",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.3:c.877G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Ala293Thr",
        "hgvsWellDefined": "NP_001120973.2:p.Ala293Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119176",
      "coordinates": [
        {
          "allele": "A",
          "end": 1025,
          "referenceAllele": "G",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.2:c.811G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Ala271Thr",
        "hgvsWellDefined": "NP_001170991.1:p.Ala271Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1255,
          "referenceAllele": "G",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.3:c.1042G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Ala348Thr",
        "hgvsWellDefined": "XP_006710609.1:p.Ala348Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_017000903.1:c.886G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856392.1:p.Ala296Thr",
        "hgvsWellDefined": "XP_016856392.1:p.Ala296Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112580",
      "coordinates": [
        {
          "allele": "A",
          "end": 1241,
          "referenceAllele": "G",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.6:c.1042G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Ala348Thr",
        "hgvsWellDefined": "NP_000469.3:p.Ala348Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.1042G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.1042G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Ala348Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Ala348Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825623789",
      "coordinates": [
        {
          "allele": "A",
          "end": 1076,
          "referenceAllele": "G",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.4:c.877G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Ala293Thr",
        "hgvsWellDefined": "NP_001120973.2:p.Ala293Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119176",
      "coordinates": [
        {
          "allele": "A",
          "end": 960,
          "referenceAllele": "G",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.3:c.811G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Ala271Thr",
        "hgvsWellDefined": "NP_001170991.1:p.Ala271Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828362526",
      "coordinates": [
        {
          "allele": "A",
          "end": 1305,
          "referenceAllele": "G",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369803.2:c.1042G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356732.1:p.Ala348Thr",
        "hgvsWellDefined": "NP_001356732.1:p.Ala348Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828363266",
      "coordinates": [
        {
          "allele": "A",
          "end": 1239,
          "referenceAllele": "G",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369804.2:c.1042G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356733.1:p.Ala348Thr",
        "hgvsWellDefined": "NP_001356733.1:p.Ala348Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047947",
      "coordinates": [
        {
          "allele": "A",
          "end": 1274,
          "referenceAllele": "G",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369805.2:c.1042G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356734.1:p.Ala348Thr",
        "hgvsWellDefined": "NP_001356734.1:p.Ala348Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691987"
    }
  ],
  "type": "nucleotide"
}