{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123895",
  "communityStandardTitle": [
    "NM_005576.4(LOXL1):c.422G>T (p.Arg141Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3749312"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29399[alleleid]",
        "alleleId": 29399,
        "preferredName": "NM_005576.4(LOXL1):c.422G>T (p.Arg141Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14360",
        "RCV": [
          "RCV000015434"
        ],
        "variationId": 14360
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-74219546-G-T",
        "id": "15-74219546-G-T",
        "variant": "15:74219546 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.74219546G>T?assembly=hg19",
        "id": "chr15:g.74219546G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.73927205G>T?assembly=hg38",
        "id": "chr15:g.73927205G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1048661",
        "rs": 1048661
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-74219546-G-T?dataset=gnomad_r2_1",
        "id": "15-74219546-G-T",
        "variant": "15:74219546 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-73927205-G-T?dataset=gnomad_r3",
        "id": "15-73927205-G-T",
        "variant": "15:73927205 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-73927205-G-T?dataset=gnomad_r4",
        "id": "15-73927205-G-T",
        "variant": "15:73927205 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 73927205,
          "referenceAllele": "G",
          "start": 73927204
        }
      ],
      "hgvs": [
        "NC_000015.10:g.73927205G>T",
        "CM000677.2:g.73927205G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 74219546,
          "referenceAllele": "G",
          "start": 74219545
        }
      ],
      "hgvs": [
        "NC_000015.9:g.74219546G>T",
        "CM000677.1:g.74219546G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 72006599,
          "referenceAllele": "G",
          "start": 72006598
        }
      ],
      "hgvs": [
        "NC_000015.8:g.72006599G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5758,
          "referenceAllele": "G",
          "start": 5757
        }
      ],
      "hgvs": [
        "NG_011466.1:g.5758G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001734"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "G",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "ENST00000261921.8:c.422G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261921.7:p.Arg141Leu",
        "hgvsWellDefined": "ENSP00000261921.7:p.Arg141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742244",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261921.8:c.422G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005576.4:c.422G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261921.7:p.Arg141Leu"
          },
          "RefSeq": {
            "hgvs": "NP_005567.2:p.Arg141Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 748,
          "referenceAllele": "G",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "ENST00000261921.7:c.422G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261921.7:p.Arg141Leu",
        "hgvsWellDefined": "ENSP00000261921.7:p.Arg141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1217,
          "referenceAllele": "G",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "ENST00000566011.5:c.422G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457827.1:p.Arg141Leu",
        "hgvsWellDefined": "ENSP00000457827.1:p.Arg141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123896",
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "G",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "NM_005576.2:c.422G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005567.2:p.Arg141Leu",
        "hgvsWellDefined": "NP_005567.2:p.Arg141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 133,
          "endIntronDirection": "+",
          "endIntronOffset": 449,
          "referenceAllele": "C",
          "start": 133,
          "startIntronDirection": "+",
          "startIntronOffset": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044169",
      "geneNCBI_id": 100287616,
      "geneSymbol": "LOXL1-AS1",
      "hgvs": [
        "NR_040066.1:n.133+449C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 133,
          "endIntronDirection": "+",
          "endIntronOffset": 449,
          "referenceAllele": "C",
          "start": 133,
          "startIntronDirection": "+",
          "startIntronOffset": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044169",
      "geneNCBI_id": 100287616,
      "geneSymbol": "LOXL1-AS1",
      "hgvs": [
        "NR_040067.1:n.133+449C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 184,
          "endIntronDirection": "+",
          "endIntronOffset": 860,
          "referenceAllele": "C",
          "start": 184,
          "startIntronDirection": "+",
          "startIntronOffset": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044169",
      "geneNCBI_id": 100287616,
      "geneSymbol": "LOXL1-AS1",
      "hgvs": [
        "NR_040068.1:n.184+860C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 184,
          "endIntronDirection": "+",
          "endIntronOffset": 860,
          "referenceAllele": "C",
          "start": 184,
          "startIntronDirection": "+",
          "startIntronOffset": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044169",
      "geneNCBI_id": 100287616,
      "geneSymbol": "LOXL1-AS1",
      "hgvs": [
        "NR_040069.1:n.184+860C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 184,
          "endIntronDirection": "+",
          "endIntronOffset": 572,
          "referenceAllele": "C",
          "start": 184,
          "startIntronDirection": "+",
          "startIntronOffset": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044169",
      "geneNCBI_id": 100287616,
      "geneSymbol": "LOXL1-AS1",
      "hgvs": [
        "NR_040070.1:n.184+572C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 755,
          "referenceAllele": "G",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "XM_011521555.1:c.422G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519857.1:p.Arg141Leu",
        "hgvsWellDefined": "XP_011519857.1:p.Arg141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 755,
          "referenceAllele": "G",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "XR_931824.1:n.755G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127905"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123896",
      "coordinates": [
        {
          "allele": "T",
          "end": 748,
          "referenceAllele": "G",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "NM_005576.3:c.422G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005567.2:p.Arg141Leu",
        "hgvsWellDefined": "NP_005567.2:p.Arg141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525325"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "G",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "XM_011521555.2:c.422G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519857.1:p.Arg141Leu",
        "hgvsWellDefined": "XP_011519857.1:p.Arg141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "G",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "XR_931824.2:n.744G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610032"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123896",
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "G",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006665",
      "geneNCBI_id": 4016,
      "geneSymbol": "LOXL1",
      "hgvs": [
        "NM_005576.4:c.422G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005567.2:p.Arg141Leu",
        "hgvsWellDefined": "NP_005567.2:p.Arg141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667040",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261921.8:c.422G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005576.4:c.422G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261921.7:p.Arg141Leu"
          },
          "RefSeq": {
            "hgvs": "NP_005567.2:p.Arg141Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}