{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10512417",
  "communityStandardTitle": [
    "NM_000276.4(OCRL):c.2695G>A (p.Glu899Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1218273",
        "active": true,
        "id": "COSM1218273"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363922[alleleid]",
        "alleleId": 363922,
        "preferredName": "NM_000276.4(OCRL):c.2695G>A (p.Glu899Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/377044",
        "RCV": [
          "RCV000445063",
          "RCV003509530"
        ],
        "variationId": 377044
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-128724236-G-A",
        "id": "X-128724236-G-A",
        "variant": "X:128724236 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.128724236G>A?assembly=hg19",
        "id": "chrX:g.128724236G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.129590259G>A?assembly=hg38",
        "id": "chrX:g.129590259G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749551841",
        "rs": 749551841
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-128724236-G-A?dataset=gnomad_r2_1",
        "id": "X-128724236-G-A",
        "variant": "X:128724236 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-129590259-G-A?dataset=gnomad_r3",
        "id": "X-129590259-G-A",
        "variant": "X:129590259 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-129590259-G-A?dataset=gnomad_r4",
        "id": "X-129590259-G-A",
        "variant": "X:129590259 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 129590259,
          "referenceAllele": "G",
          "start": 129590258
        }
      ],
      "hgvs": [
        "NC_000023.11:g.129590259G>A",
        "CM000685.2:g.129590259G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 128724236,
          "referenceAllele": "G",
          "start": 128724235
        }
      ],
      "hgvs": [
        "NC_000023.10:g.128724236G>A",
        "CM000685.1:g.128724236G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 128551917,
          "referenceAllele": "G",
          "start": 128551916
        }
      ],
      "hgvs": [
        "NC_000023.9:g.128551917G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54985,
          "referenceAllele": "G",
          "start": 54984
        }
      ],
      "hgvs": [
        "NG_008638.1:g.54985G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001137"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2812,
          "referenceAllele": "G",
          "start": 2811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000693473.1:c.2812G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2876,
          "referenceAllele": "G",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000371113.9:c.2695G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360154.4:p.Glu899Lys",
        "hgvsWellDefined": "ENSP00000360154.4:p.Glu899Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750725",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.2695G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.2695G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:p.Glu899Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:p.Glu899Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2743,
          "referenceAllele": "G",
          "start": 2742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000646010.1:c.2743G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2000,
          "referenceAllele": "G",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000646914.1:c.2000G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2246,
          "referenceAllele": "G",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000647245.1:c.2246G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2836,
          "referenceAllele": "G",
          "start": 2835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000357121.5:c.2671G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349635.5:p.Glu891Lys",
        "hgvsWellDefined": "ENSP00000349635.5:p.Glu891Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2860,
          "referenceAllele": "G",
          "start": 2859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000371113.8:c.2695G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360154.4:p.Glu899Lys",
        "hgvsWellDefined": "ENSP00000360154.4:p.Glu899Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "ENST00000463271.1:n.482G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645419079",
      "coordinates": [
        {
          "allele": "A",
          "end": 2860,
          "referenceAllele": "G",
          "start": 2859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.3:c.2695G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:p.Glu899Lys",
        "hgvsWellDefined": "NP_000267.2:p.Glu899Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332194",
      "coordinates": [
        {
          "allele": "A",
          "end": 2836,
          "referenceAllele": "G",
          "start": 2835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.3:c.2671G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:p.Glu891Lys",
        "hgvsWellDefined": "NP_001578.2:p.Glu891Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2667,
          "referenceAllele": "G",
          "start": 2666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_005262422.1:c.2224G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262479.1:p.Glu742Lys",
        "hgvsWellDefined": "XP_005262479.1:p.Glu742Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2877,
          "referenceAllele": "G",
          "start": 2876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531342.1:c.2698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529644.1:p.Glu900Lys",
        "hgvsWellDefined": "XP_011529644.1:p.Glu900Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2766,
          "referenceAllele": "G",
          "start": 2765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531343.1:c.2674G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529645.1:p.Glu892Lys",
        "hgvsWellDefined": "XP_011529645.1:p.Glu892Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2769,
          "referenceAllele": "G",
          "start": 2768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.1:c.2551G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:p.Glu851Lys",
        "hgvsWellDefined": "XP_011529646.1:p.Glu851Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2785,
          "referenceAllele": "G",
          "start": 2784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.1:c.2551G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:p.Glu851Lys",
        "hgvsWellDefined": "XP_011529647.1:p.Glu851Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022643",
      "coordinates": [
        {
          "allele": "A",
          "end": 2883,
          "referenceAllele": "G",
          "start": 2882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.1:c.2698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.Glu900Lys",
        "hgvsWellDefined": "NP_001305713.1:p.Glu900Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2667,
          "referenceAllele": "G",
          "start": 2666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_005262422.2:c.2224G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262479.1:p.Glu742Lys",
        "hgvsWellDefined": "XP_005262479.1:p.Glu742Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2773,
          "referenceAllele": "G",
          "start": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.3:c.2551G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:p.Glu851Lys",
        "hgvsWellDefined": "XP_011529646.1:p.Glu851Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2776,
          "referenceAllele": "G",
          "start": 2775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.3:c.2551G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:p.Glu851Lys",
        "hgvsWellDefined": "XP_011529647.1:p.Glu851Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645419079",
      "coordinates": [
        {
          "allele": "A",
          "end": 2876,
          "referenceAllele": "G",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.4:c.2695G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:p.Glu899Lys",
        "hgvsWellDefined": "NP_000267.2:p.Glu899Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662380",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.2695G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.2695G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:p.Glu899Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:p.Glu899Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022643",
      "coordinates": [
        {
          "allele": "A",
          "end": 2879,
          "referenceAllele": "G",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.2:c.2698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.Glu900Lys",
        "hgvsWellDefined": "NP_001305713.1:p.Glu900Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332194",
      "coordinates": [
        {
          "allele": "A",
          "end": 2852,
          "referenceAllele": "G",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.4:c.2671G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:p.Glu891Lys",
        "hgvsWellDefined": "NP_001578.2:p.Glu891Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695324"
    }
  ],
  "type": "nucleotide"
}