{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA19072025",
  "communityStandardTitle": [
    "NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3864521",
        "active": true,
        "id": "COSM3864521"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1483834[alleleid]",
        "alleleId": 1483834,
        "preferredName": "NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1405036",
        "RCV": [
          "RCV001903527",
          "RCV002300620"
        ],
        "variationId": 1405036
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21903920G>A?assembly=hg19",
        "id": "chr1:g.21903920G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21577427G>A?assembly=hg38",
        "id": "chr1:g.21577427G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/966212736",
        "rs": 966212736
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21577427-G-A?dataset=gnomad_r3",
        "id": "1-21577427-G-A",
        "variant": "1:21577427 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21577427-G-A?dataset=gnomad_r4",
        "id": "1-21577427-G-A",
        "variant": "1:21577427 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21577427,
          "referenceAllele": "G",
          "start": 21577426
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21577427G>A",
        "CM000663.2:g.21577427G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21903920,
          "referenceAllele": "G",
          "start": 21903919
        }
      ],
      "hgvs": [
        "NC_000001.10:g.21903920G>A",
        "CM000663.1:g.21903920G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21776507,
          "referenceAllele": "G",
          "start": 21776506
        }
      ],
      "hgvs": [
        "NC_000001.9:g.21776507G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 73063,
          "referenceAllele": "G",
          "start": 73062
        }
      ],
      "hgvs": [
        "NG_008940.1:g.73063G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001318"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1553,
          "referenceAllele": "G",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.8:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Glu452Lys",
        "hgvsWellDefined": "ENSP00000363973.3:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.1354G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.1354G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Glu452Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Glu452Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 623,
          "referenceAllele": "G",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374829.2:n.623G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374830.2:c.429G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374832.5:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363965.1:p.Glu452Lys",
        "hgvsWellDefined": "ENSP00000363965.1:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1604,
          "referenceAllele": "G",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.7:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Glu452Lys",
        "hgvsWellDefined": "ENSP00000363973.3:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000539907.5:c.1123G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437674.1:p.Glu375Lys",
        "hgvsWellDefined": "ENSP00000437674.1:p.Glu375Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1383,
          "referenceAllele": "G",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000540617.5:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442672.1:p.Glu397Lys",
        "hgvsWellDefined": "ENSP00000442672.1:p.Glu397Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112966",
      "coordinates": [
        {
          "allele": "A",
          "end": 1611,
          "referenceAllele": "G",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.4:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Glu452Lys",
        "hgvsWellDefined": "NP_000469.3:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624165",
      "coordinates": [
        {
          "allele": "A",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.2:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Glu397Lys",
        "hgvsWellDefined": "NP_001120973.2:p.Glu397Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119417",
      "coordinates": [
        {
          "allele": "A",
          "end": 1330,
          "referenceAllele": "G",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.1:c.1123G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Glu375Lys",
        "hgvsWellDefined": "NP_001170991.1:p.Glu375Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015742"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1588,
          "referenceAllele": "G",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245818.1:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245875.1:p.Glu452Lys",
        "hgvsWellDefined": "XP_005245875.1:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1573,
          "referenceAllele": "G",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.1:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Glu452Lys",
        "hgvsWellDefined": "XP_006710609.1:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112966",
      "coordinates": [
        {
          "allele": "A",
          "end": 1618,
          "referenceAllele": "G",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.5:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Glu452Lys",
        "hgvsWellDefined": "NP_000469.3:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624165",
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.3:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Glu397Lys",
        "hgvsWellDefined": "NP_001120973.2:p.Glu397Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119417",
      "coordinates": [
        {
          "allele": "A",
          "end": 1337,
          "referenceAllele": "G",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.2:c.1123G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Glu375Lys",
        "hgvsWellDefined": "NP_001170991.1:p.Glu375Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1567,
          "referenceAllele": "G",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.3:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Glu452Lys",
        "hgvsWellDefined": "XP_006710609.1:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1198,
          "referenceAllele": "G",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_017000903.1:c.1198G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856392.1:p.Glu400Lys",
        "hgvsWellDefined": "XP_016856392.1:p.Glu400Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112966",
      "coordinates": [
        {
          "allele": "A",
          "end": 1553,
          "referenceAllele": "G",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.6:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Glu452Lys",
        "hgvsWellDefined": "NP_000469.3:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.1354G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.1354G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Glu452Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Glu452Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624165",
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.4:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Glu397Lys",
        "hgvsWellDefined": "NP_001120973.2:p.Glu397Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119417",
      "coordinates": [
        {
          "allele": "A",
          "end": 1272,
          "referenceAllele": "G",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.3:c.1123G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Glu375Lys",
        "hgvsWellDefined": "NP_001170991.1:p.Glu375Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828362687",
      "coordinates": [
        {
          "allele": "A",
          "end": 1617,
          "referenceAllele": "G",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369803.2:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356732.1:p.Glu452Lys",
        "hgvsWellDefined": "NP_001356732.1:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828363428",
      "coordinates": [
        {
          "allele": "A",
          "end": 1551,
          "referenceAllele": "G",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369804.2:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356733.1:p.Glu452Lys",
        "hgvsWellDefined": "NP_001356733.1:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573211598",
      "coordinates": [
        {
          "allele": "A",
          "end": 1586,
          "referenceAllele": "G",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369805.2:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356734.1:p.Glu452Lys",
        "hgvsWellDefined": "NP_001356734.1:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691987"
    }
  ],
  "type": "nucleotide"
}