{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2749279",
  "communityStandardTitle": [
    "NM_139125.4(MASP1):c.1350C>T (p.Ile450=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1113839[alleleid]",
        "alleleId": 1113839,
        "preferredName": "NM_139125.4(MASP1):c.1350C>T (p.Ile450=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1134404",
        "RCV": [
          "RCV001469315"
        ],
        "variationId": 1134404
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-186954309-G-A",
        "id": "3-186954309-G-A",
        "variant": "3:186954309 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.186954309G>A?assembly=hg19",
        "id": "chr3:g.186954309G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.187236521G>A?assembly=hg38",
        "id": "chr3:g.187236521G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143748671",
        "rs": 143748671
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-186954309-G-A?dataset=gnomad_r2_1",
        "id": "3-186954309-G-A",
        "variant": "3:186954309 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-187236521-G-A?dataset=gnomad_r3",
        "id": "3-187236521-G-A",
        "variant": "3:187236521 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-187236521-G-A?dataset=gnomad_r4",
        "id": "3-187236521-G-A",
        "variant": "3:187236521 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 187236521,
          "referenceAllele": "G",
          "start": 187236520
        }
      ],
      "hgvs": [
        "NC_000003.12:g.187236521G>A",
        "CM000665.2:g.187236521G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 186954309,
          "referenceAllele": "G",
          "start": 186954308
        }
      ],
      "hgvs": [
        "NC_000003.11:g.186954309G>A",
        "CM000665.1:g.186954309G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 188437003,
          "referenceAllele": "G",
          "start": 188437002
        }
      ],
      "hgvs": [
        "NC_000003.10:g.188437003G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60502,
          "referenceAllele": "C",
          "start": 60501
        }
      ],
      "hgvs": [
        "NG_029440.1:g.60502C>T",
        "LRG_349:g.60502C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004385"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "ENST00000296280.11:c.1350C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296280.7:p.Ile450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296280.11:c.1350C>T"
          },
          "RefSeq": {
            "hgvs": "NM_139125.4:c.1350C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296280.7:p.Ile450="
          },
          "RefSeq": {
            "hgvs": "NP_624302.1:p.Ile450="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1408,
          "endIntronDirection": "+",
          "endIntronOffset": 4960,
          "referenceAllele": "C",
          "start": 1408,
          "startIntronDirection": "+",
          "startIntronOffset": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "ENST00000337774.10:c.1303+4960C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336792.5:n.1303+4960C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747687",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337774.10:c.1303+4960C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001879.6:c.1303+4960C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336792.5:n.1303+4960C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001870.3:n.1303+4960C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1576,
          "referenceAllele": "C",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "ENST00000296280.10:c.1350C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296280.6:p.Ile450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1693,
          "endIntronDirection": "+",
          "endIntronOffset": 4960,
          "referenceAllele": "C",
          "start": 1693,
          "startIntronDirection": "+",
          "startIntronOffset": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "ENST00000337774.9:c.1303+4960C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336792.5:n.1303+4960C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "ENST00000392472.6:c.1011C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376264.2:p.Ile337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 177,
          "endIntronDirection": "+",
          "endIntronOffset": 4960,
          "referenceAllele": "C",
          "start": 177,
          "startIntronDirection": "+",
          "startIntronOffset": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "ENST00000468121.1:n.177+4960C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3543,
          "referenceAllele": "C",
          "start": 3542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "ENST00000480349.1:n.3543C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66,
          "endIntronDirection": "-",
          "endIntronOffset": 133,
          "referenceAllele": "C",
          "start": 66,
          "startIntronDirection": "-",
          "startIntronOffset": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "ENST00000495249.1:n.67-134C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1693,
          "endIntronDirection": "+",
          "endIntronOffset": 4960,
          "referenceAllele": "C",
          "start": 1693,
          "startIntronDirection": "+",
          "startIntronOffset": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "NM_001879.5:c.1303+4960C>T",
        "LRG_349t2:c.1303+4960C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001870.3:n.1303+4960C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830274836",
      "coordinates": [
        {
          "allele": "T",
          "end": 1740,
          "referenceAllele": "C",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "NM_139125.3:c.1350C>T",
        "LRG_349t3:c.1350C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_624302.1:p.Ile450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "NR_033519.1:n.1508C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1424,
          "referenceAllele": "C",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "XM_006713700.2:c.1272C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713763.1:p.Ile424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1714,
          "referenceAllele": "C",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "XM_011512989.1:c.1371C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511291.1:p.Ile457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1667,
          "endIntronDirection": "+",
          "endIntronOffset": 4960,
          "referenceAllele": "C",
          "start": 1667,
          "startIntronDirection": "+",
          "startIntronOffset": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "XM_011512990.1:c.1324+4960C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511292.1:n.1324+4960C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1734,
          "referenceAllele": "C",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "XM_011512989.2:c.1371C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511291.1:p.Ile457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1687,
          "endIntronDirection": "+",
          "endIntronOffset": 4960,
          "referenceAllele": "C",
          "start": 1687,
          "startIntronDirection": "+",
          "startIntronOffset": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "XM_011512990.2:c.1324+4960C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511292.1:n.1324+4960C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1818,
          "referenceAllele": "C",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "XM_017006869.1:c.1272C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862358.1:p.Ile424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2968,
          "endIntronDirection": "+",
          "endIntronOffset": 4960,
          "referenceAllele": "C",
          "start": 2968,
          "startIntronDirection": "+",
          "startIntronOffset": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "XM_017006870.2:c.1210+4960C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862359.1:n.1210+4960C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1687,
          "endIntronDirection": "+",
          "endIntronOffset": 4960,
          "referenceAllele": "C",
          "start": 1687,
          "startIntronDirection": "+",
          "startIntronOffset": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "XM_017006871.1:c.1324+4960C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862360.1:n.1324+4960C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1593,
          "referenceAllele": "C",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "XM_017006872.1:c.1011C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862361.1:p.Ile337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830274836",
      "coordinates": [
        {
          "allele": "T",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "NM_139125.4:c.1350C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_624302.1:p.Ile450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296280.11:c.1350C>T"
          },
          "RefSeq": {
            "hgvs": "NM_139125.4:c.1350C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296280.7:p.Ile450="
          },
          "RefSeq": {
            "hgvs": "NP_624302.1:p.Ile450="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1223,
          "referenceAllele": "C",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "NR_033519.2:n.1223C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1408,
          "endIntronDirection": "+",
          "endIntronOffset": 4960,
          "referenceAllele": "C",
          "start": 1408,
          "startIntronDirection": "+",
          "startIntronOffset": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006901",
      "geneNCBI_id": 5648,
      "geneSymbol": "MASP1",
      "hgvs": [
        "NM_001879.6:c.1303+4960C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001870.3:n.1303+4960C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727218",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337774.10:c.1303+4960C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001879.6:c.1303+4960C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336792.5:n.1303+4960C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001870.3:n.1303+4960C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}