{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16621584",
  "communityStandardTitle": [
    "NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=413259[alleleid]",
        "alleleId": 413259,
        "preferredName": "NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424925",
        "RCV": [
          "RCV000488313",
          "RCV001199680"
        ],
        "variationId": 424925
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197404079T>A?assembly=hg19",
        "id": "chr1:g.197404079T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197434949T>A?assembly=hg38",
        "id": "chr1:g.197434949T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064797128",
        "rs": 1064797128
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 197434949,
          "referenceAllele": "T",
          "start": 197434948
        }
      ],
      "hgvs": [
        "NC_000001.11:g.197434949T>A",
        "CM000663.2:g.197434949T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 197404079,
          "referenceAllele": "T",
          "start": 197404078
        }
      ],
      "hgvs": [
        "NC_000001.10:g.197404079T>A",
        "CM000663.1:g.197404079T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 195670702,
          "referenceAllele": "T",
          "start": 195670701
        }
      ],
      "hgvs": [
        "NC_000001.9:g.195670702T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 171672,
          "referenceAllele": "T",
          "start": 171671
        }
      ],
      "hgvs": [
        "NG_008483.1:g.171672T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 238488,
          "referenceAllele": "T",
          "start": 238487
        }
      ],
      "hgvs": [
        "NG_008483.2:g.238488T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616106"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3247,
          "referenceAllele": "T",
          "start": 3246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.8:c.3086T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Val1029Glu",
        "hgvsWellDefined": "ENSP00000356370.3:p.Val1029Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750000",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.3086T>A"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.3086T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Val1029Glu"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Val1029Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3221,
          "referenceAllele": "T",
          "start": 3220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000638467.1:c.3086T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491102.1:p.Val1029Glu",
        "hgvsWellDefined": "ENSP00000491102.1:p.Val1029Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2067,
          "referenceAllele": "T",
          "start": 2066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000681519.1:c.1967T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505267.1:p.Val656Glu",
        "hgvsWellDefined": "ENSP00000505267.1:p.Val656Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2087,
          "referenceAllele": "T",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367397.1:c.1229T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356367.1:p.Val410Glu",
        "hgvsWellDefined": "ENSP00000356367.1:p.Val410Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2750,
          "referenceAllele": "T",
          "start": 2749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367399.6:c.2750T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356369.2:p.Val917Glu",
        "hgvsWellDefined": "ENSP00000356369.2:p.Val917Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3221,
          "referenceAllele": "T",
          "start": 3220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.7:c.3086T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Val1029Glu",
        "hgvsWellDefined": "ENSP00000356370.3:p.Val1029Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3221,
          "referenceAllele": "T",
          "start": 3220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000484075.5:c.3086T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433932.1:p.Val1029Glu",
        "hgvsWellDefined": "ENSP00000433932.1:p.Val1029Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3430,
          "referenceAllele": "T",
          "start": 3429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000535699.5:c.3014T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438786.1:p.Val1005Glu",
        "hgvsWellDefined": "ENSP00000438786.1:p.Val1005Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "endIntronDirection": "-",
          "endIntronOffset": 650,
          "referenceAllele": "T",
          "start": 2337,
          "startIntronDirection": "-",
          "startIntronOffset": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000538660.5:c.2129-651T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438091.1:n.2129-651T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361440"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915997584",
      "coordinates": [
        {
          "allele": "A",
          "end": 2959,
          "referenceAllele": "T",
          "start": 2958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.1:c.2750T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Val917Glu",
        "hgvsWellDefined": "NP_001180569.1:p.Val917Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826447038",
      "coordinates": [
        {
          "allele": "A",
          "end": 3353,
          "referenceAllele": "T",
          "start": 3352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.1:c.3014T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Val1005Glu",
        "hgvsWellDefined": "NP_001244894.1:p.Val1005Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "endIntronDirection": "-",
          "endIntronOffset": 650,
          "referenceAllele": "T",
          "start": 2337,
          "startIntronDirection": "-",
          "startIntronOffset": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.1:c.2129-651T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:n.2129-651T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645486216",
      "coordinates": [
        {
          "allele": "A",
          "end": 3295,
          "referenceAllele": "T",
          "start": 3294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.2:c.3086T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Val1029Glu",
        "hgvsWellDefined": "NP_957705.1:p.Val1029Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3087,
          "referenceAllele": "T",
          "start": 3086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.1:n.3087T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3295,
          "referenceAllele": "T",
          "start": 3294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.1:n.3295T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3220,
          "referenceAllele": "T",
          "start": 3219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.1:c.3086T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Val1029Glu",
        "hgvsWellDefined": "XP_011507667.1:p.Val1029Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3220,
          "referenceAllele": "T",
          "start": 3219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509366.1:c.3086T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507668.1:p.Val1029Glu",
        "hgvsWellDefined": "XP_011507668.1:p.Val1029Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3220,
          "referenceAllele": "T",
          "start": 3219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509367.1:c.3086T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507669.1:p.Val1029Glu",
        "hgvsWellDefined": "XP_011507669.1:p.Val1029Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2669,
          "referenceAllele": "T",
          "start": 2668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509368.1:c.2504T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507670.1:p.Val835Glu",
        "hgvsWellDefined": "XP_011507670.1:p.Val835Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2202,
          "referenceAllele": "T",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509369.1:c.1529T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507671.1:p.Val510Glu",
        "hgvsWellDefined": "XP_011507671.1:p.Val510Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3220,
          "referenceAllele": "T",
          "start": 3219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.2:c.3086T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Val1029Glu",
        "hgvsWellDefined": "XP_011507667.1:p.Val1029Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2008,
          "referenceAllele": "T",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509369.2:c.1529T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507671.1:p.Val510Glu",
        "hgvsWellDefined": "XP_011507671.1:p.Val510Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2987,
          "referenceAllele": "T",
          "start": 2986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000851.1:c.2243T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856340.1:p.Val748Glu",
        "hgvsWellDefined": "XP_016856340.1:p.Val748Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3355,
          "referenceAllele": "T",
          "start": 3354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000852.1:c.3221T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856341.1:p.Val1074Glu",
        "hgvsWellDefined": "XP_016856341.1:p.Val1074Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645486216",
      "coordinates": [
        {
          "allele": "A",
          "end": 3247,
          "referenceAllele": "T",
          "start": 3246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.3:c.3086T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Val1029Glu",
        "hgvsWellDefined": "NP_957705.1:p.Val1029Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.3086T>A"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.3086T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Val1029Glu"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Val1029Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915997584",
      "coordinates": [
        {
          "allele": "A",
          "end": 2911,
          "referenceAllele": "T",
          "start": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.2:c.2750T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Val917Glu",
        "hgvsWellDefined": "NP_001180569.1:p.Val917Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826447038",
      "coordinates": [
        {
          "allele": "A",
          "end": 3311,
          "referenceAllele": "T",
          "start": 3310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.2:c.3014T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Val1005Glu",
        "hgvsWellDefined": "NP_001244894.1:p.Val1005Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3039,
          "referenceAllele": "T",
          "start": 3038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.2:n.3039T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3247,
          "referenceAllele": "T",
          "start": 3246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.2:n.3247T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2289,
          "endIntronDirection": "-",
          "endIntronOffset": 650,
          "referenceAllele": "T",
          "start": 2289,
          "startIntronDirection": "-",
          "startIntronOffset": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.2:c.2129-651T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:n.2129-651T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714892"
    }
  ],
  "type": "nucleotide"
}