{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA666680",
  "communityStandardTitle": [
    "NM_000478.6(ALPL):c.920C>T (p.Pro307Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271747[alleleid]",
        "alleleId": 271747,
        "preferredName": "NM_000478.6(ALPL):c.920C>T (p.Pro307Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287510",
        "RCV": [
          "RCV000322603",
          "RCV002509351",
          "RCV003463768"
        ],
        "variationId": 287510
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-21900215-C-T",
        "id": "1-21900215-C-T",
        "variant": "1:21900215 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21900215C>T?assembly=hg19",
        "id": "chr1:g.21900215C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21573722C>T?assembly=hg38",
        "id": "chr1:g.21573722C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768555495",
        "rs": 768555495
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21900215-C-T?dataset=gnomad_r2_1",
        "id": "1-21900215-C-T",
        "variant": "1:21900215 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21573722-C-T?dataset=gnomad_r3",
        "id": "1-21573722-C-T",
        "variant": "1:21573722 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21573722-C-T?dataset=gnomad_r4",
        "id": "1-21573722-C-T",
        "variant": "1:21573722 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21573722,
          "referenceAllele": "C",
          "start": 21573721
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21573722C>T",
        "CM000663.2:g.21573722C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21900215,
          "referenceAllele": "C",
          "start": 21900214
        }
      ],
      "hgvs": [
        "NC_000001.10:g.21900215C>T",
        "CM000663.1:g.21900215C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21772802,
          "referenceAllele": "C",
          "start": 21772801
        }
      ],
      "hgvs": [
        "NC_000001.9:g.21772802C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69358,
          "referenceAllele": "C",
          "start": 69357
        }
      ],
      "hgvs": [
        "NG_008940.1:g.69358C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001318"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.8:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Pro307Leu",
        "hgvsWellDefined": "ENSP00000363973.3:p.Pro307Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.920C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.920C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Pro307Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Pro307Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72,
          "endIntronDirection": "-",
          "endIntronOffset": 2010,
          "referenceAllele": "C",
          "start": 72,
          "startIntronDirection": "-",
          "startIntronOffset": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374830.2:c.73-2011C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1174,
          "referenceAllele": "C",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374832.5:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363965.1:p.Pro307Leu",
        "hgvsWellDefined": "ENSP00000363965.1:p.Pro307Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1170,
          "referenceAllele": "C",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.7:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Pro307Leu",
        "hgvsWellDefined": "ENSP00000363973.3:p.Pro307Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 835,
          "referenceAllele": "C",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000539907.5:c.689C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437674.1:p.Pro230Leu",
        "hgvsWellDefined": "ENSP00000437674.1:p.Pro230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 949,
          "referenceAllele": "C",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000540617.5:c.755C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442672.1:p.Pro252Leu",
        "hgvsWellDefined": "ENSP00000442672.1:p.Pro252Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645486973",
      "coordinates": [
        {
          "allele": "T",
          "end": 1177,
          "referenceAllele": "C",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.4:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Pro307Leu",
        "hgvsWellDefined": "NP_000469.3:p.Pro307Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825623675",
      "coordinates": [
        {
          "allele": "T",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.2:c.755C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Pro252Leu",
        "hgvsWellDefined": "NP_001120973.2:p.Pro252Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119065",
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.1:c.689C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Pro230Leu",
        "hgvsWellDefined": "NP_001170991.1:p.Pro230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245818.1:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245875.1:p.Pro307Leu",
        "hgvsWellDefined": "XP_005245875.1:p.Pro307Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1116,
          "referenceAllele": "C",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245820.2:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245877.1:p.Pro307Leu",
        "hgvsWellDefined": "XP_005245877.1:p.Pro307Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "referenceAllele": "C",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.1:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Pro307Leu",
        "hgvsWellDefined": "XP_006710609.1:p.Pro307Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645486973",
      "coordinates": [
        {
          "allele": "T",
          "end": 1184,
          "referenceAllele": "C",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.5:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Pro307Leu",
        "hgvsWellDefined": "NP_000469.3:p.Pro307Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825623675",
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "referenceAllele": "C",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.3:c.755C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Pro252Leu",
        "hgvsWellDefined": "NP_001120973.2:p.Pro252Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119065",
      "coordinates": [
        {
          "allele": "T",
          "end": 903,
          "referenceAllele": "C",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.2:c.689C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Pro230Leu",
        "hgvsWellDefined": "NP_001170991.1:p.Pro230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1133,
          "referenceAllele": "C",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.3:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Pro307Leu",
        "hgvsWellDefined": "XP_006710609.1:p.Pro307Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "referenceAllele": "C",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_017000903.1:c.764C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856392.1:p.Pro255Leu",
        "hgvsWellDefined": "XP_016856392.1:p.Pro255Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645486973",
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.6:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Pro307Leu",
        "hgvsWellDefined": "NP_000469.3:p.Pro307Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.920C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.920C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Pro307Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Pro307Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825623675",
      "coordinates": [
        {
          "allele": "T",
          "end": 954,
          "referenceAllele": "C",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.4:c.755C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Pro252Leu",
        "hgvsWellDefined": "NP_001120973.2:p.Pro252Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119065",
      "coordinates": [
        {
          "allele": "T",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.3:c.689C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Pro230Leu",
        "hgvsWellDefined": "NP_001170991.1:p.Pro230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828362467",
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "C",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369803.2:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356732.1:p.Pro307Leu",
        "hgvsWellDefined": "NP_001356732.1:p.Pro307Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828363207",
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369804.2:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356733.1:p.Pro307Leu",
        "hgvsWellDefined": "NP_001356733.1:p.Pro307Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047939",
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369805.2:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356734.1:p.Pro307Leu",
        "hgvsWellDefined": "NP_001356734.1:p.Pro307Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691987"
    }
  ],
  "type": "nucleotide"
}