{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1619452670",
  "communityStandardTitle": [
    "NM_006411.4(AGPAT1):c.*506A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1061808",
        "rs": 1061808
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 32168770,
          "referenceAllele": "T",
          "start": 32168769
        }
      ],
      "hgvs": [
        "NC_000006.12:g.32168770T=",
        "CM000668.2:g.32168770T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 32136547,
          "referenceAllele": "T",
          "start": 32136546
        }
      ],
      "hgvs": [
        "NC_000006.11:g.32136547T=",
        "CM000668.1:g.32136547T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 32244525,
          "referenceAllele": "T",
          "start": 32244524
        }
      ],
      "hgvs": [
        "NC_000006.10:g.32244525T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1638,
          "referenceAllele": "A",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "ENST00000375107.8:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364248.3:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751557",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375107.8:c.*506A="
          },
          "RefSeq": {
            "hgvs": "NM_006411.4:c.*506A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364248.3:n.*506A="
          },
          "RefSeq": {
            "hgvs": "NP_006402.1:n.*506A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1463,
          "referenceAllele": "A",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "ENST00000336984.6:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337463.6:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1459,
          "referenceAllele": "A",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "ENST00000375104.6:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364245.2:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "A",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "ENST00000375107.7:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364248.3:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1545,
          "referenceAllele": "A",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "ENST00000395496.5:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378874.1:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1610,
          "referenceAllele": "A",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "ENST00000395497.5:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378875.1:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1938,
          "referenceAllele": "A",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "ENST00000395499.5:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378877.1:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2475,
          "endIntronDirection": "+",
          "endIntronOffset": 234,
          "referenceAllele": "T",
          "start": 2475,
          "startIntronDirection": "+",
          "startIntronOffset": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048343",
      "geneNCBI_id": 100532746,
      "geneSymbol": "PPT2-EGFL8",
      "hgvs": [
        "ENST00000422437.5:c.*1378+234T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457534.1:n.*1378+234T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1890,
          "referenceAllele": "A",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "ENST00000490711.5:n.1890A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1693,
          "referenceAllele": "A",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "NM_006411.3:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "NP_006402.1:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "referenceAllele": "A",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "NM_032741.4:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "NP_116130.2:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1979,
          "referenceAllele": "A",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "XM_005248805.2:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248862.1:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1480,
          "referenceAllele": "A",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "XM_005248806.1:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248863.1:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1660,
          "referenceAllele": "A",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "XM_011514234.1:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512536.1:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1959,
          "referenceAllele": "A",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "XM_005248805.4:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248862.1:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1889,
          "referenceAllele": "A",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "XM_005248806.2:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248863.1:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1638,
          "referenceAllele": "A",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "NM_006411.4:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "NP_006402.1:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667446",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375107.8:c.*506A="
          },
          "RefSeq": {
            "hgvs": "NM_006411.4:c.*506A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364248.3:n.*506A="
          },
          "RefSeq": {
            "hgvs": "NP_006402.1:n.*506A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1978,
          "referenceAllele": "A",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "NM_001371437.1:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358366.1:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1480,
          "referenceAllele": "A",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "NM_001371438.1:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358367.1:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1546,
          "referenceAllele": "A",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "NM_001371439.1:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358368.1:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1475,
          "referenceAllele": "A",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000324",
      "geneNCBI_id": 10554,
      "geneSymbol": "AGPAT1",
      "hgvs": [
        "NM_032741.5:c.*506A="
      ],
      "proteinEffect": {
        "hgvs": "NP_116130.2:n.*506A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699180"
    }
  ],
  "type": "nucleotide"
}