{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338877051",
  "communityStandardTitle": [
    "NM_000478.6(ALPL):c.299C>T (p.Thr100Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4643685",
        "active": true,
        "id": "COSM4643685"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=799154[alleleid]",
        "alleleId": 799154,
        "preferredName": "NM_000478.6(ALPL):c.299C>T (p.Thr100Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812034",
        "RCV": [
          "RCV001002604",
          "RCV001382223",
          "RCV003229004",
          "RCV004553548"
        ],
        "variationId": 812034
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21889604C>T?assembly=hg19",
        "id": "chr1:g.21889604C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21563111C>T?assembly=hg38",
        "id": "chr1:g.21563111C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1201942473",
        "rs": 1201942473
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21889604-C-T?dataset=gnomad_r2_1",
        "id": "1-21889604-C-T",
        "variant": "1:21889604 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21563111-C-T?dataset=gnomad_r3",
        "id": "1-21563111-C-T",
        "variant": "1:21563111 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21563111-C-T?dataset=gnomad_r4",
        "id": "1-21563111-C-T",
        "variant": "1:21563111 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21563111,
          "referenceAllele": "C",
          "start": 21563110
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21563111C>T",
        "CM000663.2:g.21563111C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21889604,
          "referenceAllele": "C",
          "start": 21889603
        }
      ],
      "hgvs": [
        "NC_000001.10:g.21889604C>T",
        "CM000663.1:g.21889604C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21762191,
          "referenceAllele": "C",
          "start": 21762190
        }
      ],
      "hgvs": [
        "NC_000001.9:g.21762191C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 58747,
          "referenceAllele": "C",
          "start": 58746
        }
      ],
      "hgvs": [
        "NG_008940.1:g.58747C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001318"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.8:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Thr100Met",
        "hgvsWellDefined": "ENSP00000363973.3:p.Thr100Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.299C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.299C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Thr100Met"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Thr100Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "referenceAllele": "C",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374832.5:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363965.1:p.Thr100Met",
        "hgvsWellDefined": "ENSP00000363965.1:p.Thr100Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.7:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Thr100Met",
        "hgvsWellDefined": "ENSP00000363973.3:p.Thr100Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000468526.1:n.359C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214,
          "referenceAllele": "C",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000539907.5:c.68C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437674.1:p.Thr23Met",
        "hgvsWellDefined": "ENSP00000437674.1:p.Thr23Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 328,
          "referenceAllele": "C",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000540617.5:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442672.1:p.Thr45Met",
        "hgvsWellDefined": "ENSP00000442672.1:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185073",
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.4:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Thr100Met",
        "hgvsWellDefined": "NP_000469.3:p.Thr100Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915966929",
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.2:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Thr45Met",
        "hgvsWellDefined": "NP_001120973.2:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826118664",
      "coordinates": [
        {
          "allele": "T",
          "end": 275,
          "referenceAllele": "C",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.1:c.68C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Thr23Met",
        "hgvsWellDefined": "NP_001170991.1:p.Thr23Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245818.1:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245875.1:p.Thr100Met",
        "hgvsWellDefined": "XP_005245875.1:p.Thr100Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245820.2:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245877.1:p.Thr100Met",
        "hgvsWellDefined": "XP_005245877.1:p.Thr100Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "referenceAllele": "C",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.1:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Thr100Met",
        "hgvsWellDefined": "XP_006710609.1:p.Thr100Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185073",
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.5:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Thr100Met",
        "hgvsWellDefined": "NP_000469.3:p.Thr100Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915966929",
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.3:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Thr45Met",
        "hgvsWellDefined": "NP_001120973.2:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826118664",
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.2:c.68C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Thr23Met",
        "hgvsWellDefined": "NP_001170991.1:p.Thr23Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "C",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.3:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Thr100Met",
        "hgvsWellDefined": "XP_006710609.1:p.Thr100Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 143,
          "referenceAllele": "C",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_017000903.1:c.143C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856392.1:p.Thr48Met",
        "hgvsWellDefined": "XP_016856392.1:p.Thr48Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185073",
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.6:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Thr100Met",
        "hgvsWellDefined": "NP_000469.3:p.Thr100Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.299C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.299C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Thr100Met"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Thr100Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915966929",
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.4:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Thr45Met",
        "hgvsWellDefined": "NP_001120973.2:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826118664",
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "referenceAllele": "C",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.3:c.68C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Thr23Met",
        "hgvsWellDefined": "NP_001170991.1:p.Thr23Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828362157",
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369803.2:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356732.1:p.Thr100Met",
        "hgvsWellDefined": "NP_001356732.1:p.Thr100Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828362897",
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "referenceAllele": "C",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369804.2:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356733.1:p.Thr100Met",
        "hgvsWellDefined": "NP_001356733.1:p.Thr100Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828363580",
      "coordinates": [
        {
          "allele": "T",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369805.2:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356734.1:p.Thr100Met",
        "hgvsWellDefined": "NP_001356734.1:p.Thr100Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691987"
    }
  ],
  "type": "nucleotide"
}