{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342748",
  "communityStandardTitle": [
    "NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39687[alleleid]",
        "alleleId": 39687,
        "preferredName": "NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30730",
        "RCV": [
          "RCV000023708"
        ],
        "variationId": 30730
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.42858422A>G?assembly=hg19",
        "id": "chr12:g.42858422A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.42464620A>G?assembly=hg38",
        "id": "chr12:g.42464620A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281865564",
        "rs": 281865564
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 42464620,
          "referenceAllele": "A",
          "start": 42464619
        }
      ],
      "hgvs": [
        "NC_000012.12:g.42464620A>G",
        "CM000674.2:g.42464620A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 42858422,
          "referenceAllele": "A",
          "start": 42858421
        }
      ],
      "hgvs": [
        "NC_000012.11:g.42858422A>G",
        "CM000674.1:g.42858422A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 41144689,
          "referenceAllele": "A",
          "start": 41144688
        }
      ],
      "hgvs": [
        "NC_000012.10:g.41144689A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 130151,
          "referenceAllele": "T",
          "start": 130150
        }
      ],
      "hgvs": [
        "NG_012965.1:g.130151T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002635"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "T",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000345127.9:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345064.3:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000345064.3:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748277",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345127.9:c.1414T>C"
          },
          "RefSeq": {
            "hgvs": "NM_153026.3:c.1414T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345064.3:p.Tyr472His"
          },
          "RefSeq": {
            "hgvs": "NP_694571.2:p.Tyr472His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1544,
          "referenceAllele": "T",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000445766.7:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398947.2:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000398947.2:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1758,
          "referenceAllele": "T",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000455697.6:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401060.1:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000401060.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756523"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1695,
          "referenceAllele": "T",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000548696.6:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448359.1:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000448359.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1700,
          "referenceAllele": "T",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000552240.6:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449819.1:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000449819.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1715,
          "referenceAllele": "T",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000639566.1:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492332.1:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000492332.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1633,
          "referenceAllele": "T",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000639589.1:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491051.1:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000491051.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1741,
          "referenceAllele": "T",
          "start": 1740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000639958.1:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492644.1:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000492644.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765262"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1712,
          "referenceAllele": "T",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000640055.1:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492763.1:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000492763.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1759,
          "referenceAllele": "T",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000640132.1:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491228.1:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000491228.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "T",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000640361.1:n.461T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1241,
          "referenceAllele": "T",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000640840.1:n.1241T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1674,
          "referenceAllele": "T",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000345127.7:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345064.3:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000345064.3:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1544,
          "referenceAllele": "T",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000445766.6:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398947.2:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000398947.2:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1700,
          "referenceAllele": "T",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000455697.5:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401060.1:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000401060.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1644,
          "referenceAllele": "T",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000548696.5:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448359.1:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000448359.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1701,
          "referenceAllele": "T",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "ENST00000552240.5:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449819.1:p.Tyr472His",
        "hgvsWellDefined": "ENSP00000449819.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104906",
      "coordinates": [
        {
          "allele": "C",
          "end": 1701,
          "referenceAllele": "T",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "NM_001144881.1:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138353.1:p.Tyr472His",
        "hgvsWellDefined": "NP_001138353.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825870084",
      "coordinates": [
        {
          "allele": "C",
          "end": 1700,
          "referenceAllele": "T",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "NM_001144882.1:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138354.1:p.Tyr472His",
        "hgvsWellDefined": "NP_001138354.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825870546",
      "coordinates": [
        {
          "allele": "C",
          "end": 1697,
          "referenceAllele": "T",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "NM_001144883.1:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138355.1:p.Tyr472His",
        "hgvsWellDefined": "NP_001138355.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013324"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342749",
      "coordinates": [
        {
          "allele": "C",
          "end": 1768,
          "referenceAllele": "T",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "NM_153026.2:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_694571.2:p.Tyr472His",
        "hgvsWellDefined": "NP_694571.2:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042246"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1519,
          "referenceAllele": "T",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "XM_011537946.1:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536248.1:p.Tyr472His",
        "hgvsWellDefined": "XP_011536248.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104904"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1739,
          "referenceAllele": "T",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "XM_011537947.1:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536249.1:p.Tyr472His",
        "hgvsWellDefined": "XP_011536249.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "T",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "XM_011537947.2:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536249.1:p.Tyr472His",
        "hgvsWellDefined": "XP_011536249.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1564,
          "referenceAllele": "T",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "XM_017018838.1:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874327.1:p.Tyr472His",
        "hgvsWellDefined": "XP_016874327.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1764,
          "referenceAllele": "T",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "XM_017018839.1:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874328.1:p.Tyr472His",
        "hgvsWellDefined": "XP_016874328.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570681"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1584,
          "referenceAllele": "T",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "XM_017018840.1:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874329.1:p.Tyr472His",
        "hgvsWellDefined": "XP_016874329.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342749",
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "T",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "NM_153026.3:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_694571.2:p.Tyr472His",
        "hgvsWellDefined": "NP_694571.2:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345127.9:c.1414T>C"
          },
          "RefSeq": {
            "hgvs": "NM_153026.3:c.1414T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345064.3:p.Tyr472His"
          },
          "RefSeq": {
            "hgvs": "NP_694571.2:p.Tyr472His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA104906",
      "coordinates": [
        {
          "allele": "C",
          "end": 1702,
          "referenceAllele": "T",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "NM_001144881.2:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138353.1:p.Tyr472His",
        "hgvsWellDefined": "NP_001138353.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677731"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825870084",
      "coordinates": [
        {
          "allele": "C",
          "end": 1715,
          "referenceAllele": "T",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "NM_001144882.2:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138354.1:p.Tyr472His",
        "hgvsWellDefined": "NP_001138354.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825870546",
      "coordinates": [
        {
          "allele": "C",
          "end": 1712,
          "referenceAllele": "T",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017019",
      "geneNCBI_id": 144165,
      "geneSymbol": "PRICKLE1",
      "hgvs": [
        "NM_001144883.2:c.1414T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138355.1:p.Tyr472His",
        "hgvsWellDefined": "NP_001138355.1:p.Tyr472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677733"
    }
  ],
  "type": "nucleotide"
}