{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377517715",
  "communityStandardTitle": [
    "NM_000235.4(LIPA):c.428+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=545310[alleleid]",
        "alleleId": 545310,
        "preferredName": "NM_000235.4(LIPA):c.428+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/557940",
        "RCV": [
          "RCV000674143"
        ],
        "variationId": 557940
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.90987956C>T?assembly=hg19",
        "id": "chr10:g.90987956C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.89228199C>T?assembly=hg38",
        "id": "chr10:g.89228199C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554866004",
        "rs": 1554866004
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-89228199-C-T?dataset=gnomad_r4",
        "id": "10-89228199-C-T",
        "variant": "10:89228199 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 89228199,
          "referenceAllele": "C",
          "start": 89228198
        }
      ],
      "hgvs": [
        "NC_000010.11:g.89228199C>T",
        "CM000672.2:g.89228199C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 90987956,
          "referenceAllele": "C",
          "start": 90987955
        }
      ],
      "hgvs": [
        "NC_000010.10:g.90987956C>T",
        "CM000672.1:g.90987956C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 90977936,
          "referenceAllele": "C",
          "start": 90977935
        }
      ],
      "hgvs": [
        "NC_000010.9:g.90977936C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28705,
          "referenceAllele": "G",
          "start": 28704
        }
      ],
      "hgvs": [
        "NG_008194.1:g.28705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000936"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000336233.10:c.428+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337354.5:n.428+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747566",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336233.10:c.428+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000235.4:c.428+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337354.5:n.428+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000226.2:n.428+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 523,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 523,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000282673.5:c.428+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282673.4:n.428+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 751,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000336233.9:c.428+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337354.5:n.428+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 482,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000371837.5:c.260+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360903.1:n.260+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 611,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 611,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000428800.5:c.428+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388415.1:n.428+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 502,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000456827.5:c.80+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413019.2:n.80+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 732,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 732,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_000235.3:c.428+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000226.2:n.428+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 631,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 631,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001127605.2:c.428+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121077.1:n.428+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 502,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001288979.1:c.80+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275908.1:n.80+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1158,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1158,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "XM_024448023.1:c.428+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303791.1:n.428+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_000235.4:c.428+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000226.2:n.428+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662368",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336233.10:c.428+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000235.4:c.428+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337354.5:n.428+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000226.2:n.428+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 498,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 498,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001127605.3:c.428+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121077.1:n.428+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 238,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001288979.2:c.80+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275908.1:n.80+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716512"
    }
  ],
  "type": "nucleotide"
}