{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA740936200",
  "communityStandardTitle": [
    "NM_001037317.2(PLPPR5):c.237+16704A>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.99453287T>A?assembly=hg19",
        "id": "chr1:g.99453287T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.98987731T>A?assembly=hg38",
        "id": "chr1:g.98987731T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10443196",
        "rs": 10443196
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 98987731,
          "referenceAllele": "T",
          "start": 98987730
        }
      ],
      "hgvs": [
        "NC_000001.11:g.98987731T>A",
        "CM000663.2:g.98987731T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 99453287,
          "referenceAllele": "T",
          "start": 99453286
        }
      ],
      "hgvs": [
        "NC_000001.10:g.99453287T>A",
        "CM000663.1:g.99453287T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 99225875,
          "referenceAllele": "T",
          "start": 99225874
        }
      ],
      "hgvs": [
        "NC_000001.9:g.99225875T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 160,
          "endIntronDirection": "-",
          "endIntronOffset": 30989,
          "referenceAllele": "A",
          "start": 160,
          "startIntronDirection": "-",
          "startIntronOffset": 30990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "ENST00000696571.1:c.73-30990A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512726.1:n.73-30990A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "endIntronDirection": "+",
          "endIntronOffset": 16704,
          "referenceAllele": "A",
          "start": 427,
          "startIntronDirection": "+",
          "startIntronOffset": 16703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "ENST00000263177.5:c.237+16704A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263177.4:n.237+16704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742465",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263177.5:c.237+16704A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001037317.2:c.237+16704A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263177.4:n.237+16704A>T"
          },
          "RefSeq": {
            "hgvs": "NP_001032394.1:n.237+16704A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "endIntronDirection": "+",
          "endIntronOffset": 16704,
          "referenceAllele": "A",
          "start": 598,
          "startIntronDirection": "+",
          "startIntronOffset": 16703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "ENST00000672681.1:c.237+16704A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500930.1:n.237+16704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "endIntronDirection": "+",
          "endIntronOffset": 16704,
          "referenceAllele": "A",
          "start": 459,
          "startIntronDirection": "+",
          "startIntronOffset": 16703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "ENST00000263177.4:c.237+16704A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263177.4:n.237+16704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "endIntronDirection": "+",
          "endIntronOffset": 16704,
          "referenceAllele": "A",
          "start": 598,
          "startIntronDirection": "+",
          "startIntronOffset": 16703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "ENST00000370188.7:c.237+16704A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359207.3:n.237+16704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "endIntronDirection": "+",
          "endIntronOffset": 16704,
          "referenceAllele": "A",
          "start": 459,
          "startIntronDirection": "+",
          "startIntronOffset": 16703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "NM_001010861.2:c.237+16704A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001010861.1:n.237+16704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "endIntronDirection": "+",
          "endIntronOffset": 16704,
          "referenceAllele": "A",
          "start": 459,
          "startIntronDirection": "+",
          "startIntronOffset": 16703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "NM_001037317.1:c.237+16704A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032394.1:n.237+16704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "endIntronDirection": "+",
          "endIntronOffset": 16704,
          "referenceAllele": "A",
          "start": 453,
          "startIntronDirection": "+",
          "startIntronOffset": 16703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "XM_011540836.1:c.237+16704A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539138.1:n.237+16704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "endIntronDirection": "+",
          "endIntronOffset": 16704,
          "referenceAllele": "A",
          "start": 453,
          "startIntronDirection": "+",
          "startIntronOffset": 16703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "XM_011540837.1:c.237+16704A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539139.1:n.237+16704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 893,
          "endIntronDirection": "+",
          "endIntronOffset": 16704,
          "referenceAllele": "A",
          "start": 893,
          "startIntronDirection": "+",
          "startIntronOffset": 16703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "XM_011540838.1:c.189+16704A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539140.1:n.189+16704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 699,
          "endIntronDirection": "+",
          "endIntronOffset": 16704,
          "referenceAllele": "A",
          "start": 699,
          "startIntronDirection": "+",
          "startIntronOffset": 16703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "XM_011540839.1:c.189+16704A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539141.1:n.189+16704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "endIntronDirection": "+",
          "endIntronOffset": 16704,
          "referenceAllele": "A",
          "start": 453,
          "startIntronDirection": "+",
          "startIntronOffset": 16703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "XM_011540836.2:c.237+16704A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539138.1:n.237+16704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1214,
          "endIntronDirection": "+",
          "endIntronOffset": 16704,
          "referenceAllele": "A",
          "start": 1214,
          "startIntronDirection": "+",
          "startIntronOffset": 16703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "XM_011540838.3:c.189+16704A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539140.1:n.189+16704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "endIntronDirection": "+",
          "endIntronOffset": 16704,
          "referenceAllele": "A",
          "start": 427,
          "startIntronDirection": "+",
          "startIntronOffset": 16703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "NM_001037317.2:c.237+16704A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032394.1:n.237+16704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663091",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263177.5:c.237+16704A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001037317.2:c.237+16704A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263177.4:n.237+16704A>T"
          },
          "RefSeq": {
            "hgvs": "NP_001032394.1:n.237+16704A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "endIntronDirection": "+",
          "endIntronOffset": 16704,
          "referenceAllele": "A",
          "start": 427,
          "startIntronDirection": "+",
          "startIntronOffset": 16703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031703",
      "geneNCBI_id": 163404,
      "geneSymbol": "PLPPR5",
      "hgvs": [
        "NM_001010861.3:c.237+16704A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001010861.1:n.237+16704A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675369"
    }
  ],
  "type": "nucleotide"
}