{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA677016625",
  "communityStandardTitle": [
    "NM_024113.5(CSTPP1):c.757+356A>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47179829A>C?assembly=hg19",
        "id": "chr11:g.47179829A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47158278A>C?assembly=hg38",
        "id": "chr11:g.47158278A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060573",
        "rs": 1060573
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47158278-A-C?dataset=gnomad_r3",
        "id": "11-47158278-A-C",
        "variant": "11:47158278 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47158278-A-C?dataset=gnomad_r4",
        "id": "11-47158278-A-C",
        "variant": "11:47158278 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47158278,
          "referenceAllele": "A",
          "start": 47158277
        }
      ],
      "hgvs": [
        "NC_000011.10:g.47158278A>C",
        "CM000673.2:g.47158278A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47179829,
          "referenceAllele": "A",
          "start": 47179828
        }
      ],
      "hgvs": [
        "NC_000011.9:g.47179829A>C",
        "CM000673.1:g.47179829A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47136405,
          "referenceAllele": "A",
          "start": 47136404
        }
      ],
      "hgvs": [
        "NC_000011.8:g.47136405A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 802,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 802,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "ENST00000278460.12:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278460.8:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743485",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278460.12:c.757+356A>C"
          },
          "RefSeq": {
            "hgvs": "NM_024113.5:c.757+356A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278460.8:n.757+356A>C"
          },
          "RefSeq": {
            "hgvs": "NP_077018.1:n.757+356A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 816,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 816,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "ENST00000278460.11:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278460.7:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 785,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 785,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "ENST00000378615.7:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367878.3:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 809,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "ENST00000378618.6:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367881.2:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 795,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 795,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "ENST00000395460.6:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378844.2:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 681,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 681,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "ENST00000525895.5:c.*468+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432535.1:n.*468+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 535,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 535,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "ENST00000526827.1:c.535+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433707.1:n.535+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 516,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 516,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "ENST00000527234.5:n.516+356A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 652,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "ENST00000527784.5:c.*476+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436571.1:n.*476+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353424"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1111,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 1111,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "ENST00000528488.5:c.*693+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436595.1:n.*693+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 562,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 562,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "ENST00000534249.5:c.562+356A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 433,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "ENST00000534581.1:n.433+356A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 874,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "NM_001003676.2:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003676.1:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 874,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "NM_001003677.2:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003677.1:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 874,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "NM_001003678.2:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003678.1:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007322"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 771,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 771,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "NM_001278222.1:c.730+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265151.1:n.730+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 874,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "NM_024113.4:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_077018.1:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037695"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1119,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 1119,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "NR_103471.1:n.1119+356A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 743,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 743,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "NR_103472.1:n.743+356A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 865,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 865,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "XM_006718315.1:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718378.1:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 932,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 932,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "XM_011520364.1:c.730+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518666.1:n.730+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 865,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 865,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "XM_011520365.1:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518667.1:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 833,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 833,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "XM_006718315.2:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718378.1:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 936,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 936,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "XM_011520364.2:c.730+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518666.1:n.730+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 833,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 833,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "XM_011520365.3:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518667.1:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 833,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 833,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "XM_017018276.2:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873765.1:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 702,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 702,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "XM_017018277.2:c.505+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873766.1:n.505+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 1048,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "XM_017018278.1:c.466+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873767.1:n.466+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1111,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 1111,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "XM_017018279.1:c.466+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873768.1:n.466+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1772,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 1772,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "XM_017018280.1:c.466+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873769.1:n.466+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1741,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 1741,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "XM_017018281.1:c.466+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873770.1:n.466+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570253"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 1048,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "XM_017018282.1:c.466+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873771.1:n.466+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 802,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 802,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "NM_001003677.3:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003677.1:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 802,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 802,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "NM_001003678.3:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003678.1:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 802,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 802,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "NM_024113.5:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_077018.1:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278460.12:c.757+356A>C"
          },
          "RefSeq": {
            "hgvs": "NM_024113.5:c.757+356A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278460.8:n.757+356A>C"
          },
          "RefSeq": {
            "hgvs": "NP_077018.1:n.757+356A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1047,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 1047,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "NR_103471.2:n.1047+356A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 671,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "NR_103472.2:n.671+356A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 802,
          "endIntronDirection": "+",
          "endIntronOffset": 356,
          "referenceAllele": "A",
          "start": 802,
          "startIntronDirection": "+",
          "startIntronOffset": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028720",
      "geneNCBI_id": 79096,
      "geneSymbol": "CSTPP1",
      "hgvs": [
        "NM_001003676.3:c.757+356A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003676.1:n.757+356A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711001"
    }
  ],
  "type": "nucleotide"
}