{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376132735",
  "communityStandardTitle": [
    "NM_005028.5(PIP4K2A):c.752A>T (p.Asn251Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.22839628T>A?assembly=hg19",
        "id": "chr10:g.22839628T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.22550699T>A?assembly=hg38",
        "id": "chr10:g.22550699T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2230469",
        "rs": 2230469
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-22550699-T-A?dataset=gnomad_r4",
        "id": "10-22550699-T-A",
        "variant": "10:22550699 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 22550699,
          "referenceAllele": "T",
          "start": 22550698
        }
      ],
      "hgvs": [
        "NC_000010.11:g.22550699T>A",
        "CM000672.2:g.22550699T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 22839628,
          "referenceAllele": "T",
          "start": 22839627
        }
      ],
      "hgvs": [
        "NC_000010.10:g.22839628T>A",
        "CM000672.1:g.22839628T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 22879634,
          "referenceAllele": "T",
          "start": 22879633
        }
      ],
      "hgvs": [
        "NC_000010.9:g.22879634T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "A",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "ENST00000376573.9:c.752A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365757.4:p.Asn251Ile",
        "hgvsWellDefined": "ENSP00000365757.4:p.Asn251Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376573.9:c.752A>T"
          },
          "RefSeq": {
            "hgvs": "NM_005028.5:c.752A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365757.4:p.Asn251Ile"
          },
          "RefSeq": {
            "hgvs": "NP_005019.2:p.Asn251Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "ENST00000323883.11:c.332A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326294.7:p.Asn111Ile",
        "hgvsWellDefined": "ENSP00000326294.7:p.Asn111Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "referenceAllele": "A",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "ENST00000376573.8:c.752A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365757.4:p.Asn251Ile",
        "hgvsWellDefined": "ENSP00000365757.4:p.Asn251Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "A",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "ENST00000545335.5:c.575A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442098.1:p.Asn192Ile",
        "hgvsWellDefined": "ENSP00000442098.1:p.Asn192Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "referenceAllele": "A",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "ENST00000604912.1:c.290A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473858.1:p.Asn97Ile",
        "hgvsWellDefined": "ENSP00000473858.1:p.Asn97Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399236"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076679892",
      "coordinates": [
        {
          "allele": "T",
          "end": 1000,
          "referenceAllele": "A",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "NM_005028.4:c.752A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005019.2:p.Asn251Ile",
        "hgvsWellDefined": "NP_005019.2:p.Asn251Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 842,
          "referenceAllele": "A",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "XM_006717450.2:c.599A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717513.1:p.Asn200Ile",
        "hgvsWellDefined": "XP_006717513.1:p.Asn200Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "XM_011519494.1:c.713A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517796.1:p.Asn238Ile",
        "hgvsWellDefined": "XP_011517796.1:p.Asn238Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "A",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "XM_011519495.1:c.665A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517797.1:p.Asn222Ile",
        "hgvsWellDefined": "XP_011517797.1:p.Asn222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086668"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "referenceAllele": "A",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "XM_011519496.1:c.575A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517798.1:p.Asn192Ile",
        "hgvsWellDefined": "XP_011517798.1:p.Asn192Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "A",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "NM_001330062.1:c.575A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316991.1:p.Asn192Ile",
        "hgvsWellDefined": "NP_001316991.1:p.Asn192Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "A",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "XM_017016330.1:c.575A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871819.1:p.Asn192Ile",
        "hgvsWellDefined": "XP_016871819.1:p.Asn192Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "A",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "XM_017016331.1:c.575A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871820.1:p.Asn192Ile",
        "hgvsWellDefined": "XP_016871820.1:p.Asn192Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "A",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "XM_017016332.1:c.422A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871821.1:p.Asn141Ile",
        "hgvsWellDefined": "XP_016871821.1:p.Asn141Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076679892",
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "A",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "NM_005028.5:c.752A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005019.2:p.Asn251Ile",
        "hgvsWellDefined": "NP_005019.2:p.Asn251Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376573.9:c.752A>T"
          },
          "RefSeq": {
            "hgvs": "NM_005028.5:c.752A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365757.4:p.Asn251Ile"
          },
          "RefSeq": {
            "hgvs": "NP_005019.2:p.Asn251Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "A",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008997",
      "geneNCBI_id": 5305,
      "geneSymbol": "PIP4K2A",
      "hgvs": [
        "NM_001330062.2:c.575A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316991.1:p.Asn192Ile",
        "hgvsWellDefined": "NP_001316991.1:p.Asn192Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718586"
    }
  ],
  "type": "nucleotide"
}