{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342997",
  "communityStandardTitle": [
    "NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4593760"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46925[alleleid]",
        "alleleId": 46925,
        "preferredName": "NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38363",
        "RCV": [
          "RCV000031920",
          "RCV000626826",
          "RCV002247406"
        ],
        "variationId": 38363
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-142458412-C-T",
        "id": "7-142458412-C-T",
        "variant": "7:142458412 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.142458412C>T?assembly=hg19",
        "id": "chr7:g.142458412C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.142750561C>T?assembly=hg38",
        "id": "chr7:g.142750561C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202003805",
        "rs": 202003805
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-142458412-C-T?dataset=gnomad_r2_1",
        "id": "7-142458412-C-T",
        "variant": "7:142458412 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-142750561-C-T?dataset=gnomad_r3",
        "id": "7-142750561-C-T",
        "variant": "7:142750561 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-142750561-C-T?dataset=gnomad_r4",
        "id": "7-142750561-C-T",
        "variant": "7:142750561 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 142750561,
          "referenceAllele": "C",
          "start": 142750560
        }
      ],
      "hgvs": [
        "NC_000007.14:g.142750561C>T",
        "CM000669.2:g.142750561C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 142458412,
          "referenceAllele": "C",
          "start": 142458411
        }
      ],
      "hgvs": [
        "NC_000007.13:g.142458412C>T",
        "CM000669.1:g.142458412C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 142137986,
          "referenceAllele": "C",
          "start": 142137985
        }
      ],
      "hgvs": [
        "NC_000007.12:g.142137986C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6078,
          "referenceAllele": "C",
          "start": 6077
        }
      ],
      "hgvs": [
        "NG_008307.3:g.6078C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001017"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60,
          "referenceAllele": "C",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "ENST00000311737.12:c.47C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308720.7:p.Ala16Val",
        "hgvsWellDefined": "ENSP00000308720.7:p.Ala16Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745740",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311737.12:c.47C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002769.5:c.47C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308720.7:p.Ala16Val"
          },
          "RefSeq": {
            "hgvs": "NP_002760.1:p.Ala16Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53,
          "referenceAllele": "C",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "ENST00000311737.11:c.47C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308720.7:p.Ala16Val",
        "hgvsWellDefined": "ENSP00000308720.7:p.Ala16Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53,
          "endIntronDirection": "-",
          "endIntronOffset": 67,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "-",
          "startIntronOffset": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "ENST00000485223.1:n.54-68C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64,
          "referenceAllele": "C",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "ENST00000486171.5:c.47C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417854.1:p.Ala16Val",
        "hgvsWellDefined": "ENSP00000417854.1:p.Ala16Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 51,
          "referenceAllele": "C",
          "start": 50
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "ENST00000497041.1:n.51C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 380,
          "endIntronDirection": "+",
          "endIntronOffset": 29375,
          "referenceAllele": "C",
          "start": 380,
          "startIntronDirection": "+",
          "startIntronOffset": 29374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012156",
      "geneNCBI_id": 28639,
      "geneSymbol": "TRBC1",
      "hgvs": [
        "ENST00000610416.2:c.370+29375C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482915.1:n.370+29375C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53,
          "referenceAllele": "C",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "ENST00000612126.4:c.47C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479959.1:p.Ala16Val",
        "hgvsWellDefined": "ENSP00000479959.1:p.Ala16Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64,
          "referenceAllele": "C",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "ENST00000619214.4:c.47C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481361.1:p.Ala16Val",
        "hgvsWellDefined": "ENSP00000481361.1:p.Ala16Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53,
          "referenceAllele": "C",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009483",
      "geneNCBI_id": 5645,
      "geneSymbol": "PRSS2",
      "hgvs": [
        "ENST00000633114.1:c.47C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487822.1:p.Ala16Val",
        "hgvsWellDefined": "ENSP00000487822.1:p.Ala16Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 130,
          "endIntronDirection": "+",
          "endIntronOffset": 1770,
          "referenceAllele": "C",
          "start": 130,
          "startIntronDirection": "+",
          "startIntronOffset": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009483",
      "geneNCBI_id": 5645,
      "geneSymbol": "PRSS2",
      "hgvs": [
        "ENST00000634019.1:c.82+1770C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488594.1:n.82+1770C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407728"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107059",
      "coordinates": [
        {
          "allele": "T",
          "end": 64,
          "referenceAllele": "C",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "NM_002769.4:c.47C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002760.1:p.Ala16Val",
        "hgvsWellDefined": "NP_002760.1:p.Ala16Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "XM_011516411.1:c.722C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514713.1:p.Ala241Val",
        "hgvsWellDefined": "XP_011514713.1:p.Ala241Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107059",
      "coordinates": [
        {
          "allele": "T",
          "end": 60,
          "referenceAllele": "C",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "NM_002769.5:c.47C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002760.1:p.Ala16Val",
        "hgvsWellDefined": "NP_002760.1:p.Ala16Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665696",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311737.12:c.47C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002769.5:c.47C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308720.7:p.Ala16Val"
          },
          "RefSeq": {
            "hgvs": "NP_002760.1:p.Ala16Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60,
          "referenceAllele": "C",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "NR_172947.1:n.60C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60,
          "referenceAllele": "C",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "NR_172948.1:n.60C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53,
          "endIntronDirection": "-",
          "endIntronOffset": 67,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "-",
          "startIntronOffset": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "NR_172949.1:n.54-68C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 1037,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "NR_172950.1:n.53+1037C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53,
          "endIntronDirection": "-",
          "endIntronOffset": 67,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "-",
          "startIntronOffset": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009475",
      "geneNCBI_id": 5644,
      "geneSymbol": "PRSS1",
      "hgvs": [
        "NR_172951.1:n.54-68C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784690"
    }
  ],
  "type": "nucleotide"
}