{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA368874939",
  "communityStandardTitle": [
    "NM_002291.3(LAMB1):c.1539C>A (p.Asp513Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.107613460G>T?assembly=hg19",
        "id": "chr7:g.107613460G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.107973015G>T?assembly=hg38",
        "id": "chr7:g.107973015G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 107973015,
          "referenceAllele": "G",
          "start": 107973014
        }
      ],
      "hgvs": [
        "NC_000007.14:g.107973015G>T",
        "CM000669.2:g.107973015G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 107613460,
          "referenceAllele": "G",
          "start": 107613459
        }
      ],
      "hgvs": [
        "NC_000007.13:g.107613460G>T",
        "CM000669.1:g.107613460G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 107400696,
          "referenceAllele": "G",
          "start": 107400695
        }
      ],
      "hgvs": [
        "NC_000007.12:g.107400696G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35345,
          "referenceAllele": "C",
          "start": 35344
        }
      ],
      "hgvs": [
        "NG_023255.1:g.35345C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003747"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000222399.11:c.1539C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222399.6:p.Asp513Glu",
        "hgvsWellDefined": "ENSP00000222399.6:p.Asp513Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740572",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222399.11:c.1539C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002291.3:c.1539C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222399.6:p.Asp513Glu"
          },
          "RefSeq": {
            "hgvs": "NP_002282.2:p.Asp513Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1644,
          "referenceAllele": "C",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000393561.6:c.1128C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377191.2:p.Asp376Glu",
        "hgvsWellDefined": "ENSP00000377191.2:p.Asp376Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1949,
          "referenceAllele": "C",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000439976.6:c.1797C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412686.2:p.Asp599Glu",
        "hgvsWellDefined": "ENSP00000412686.2:p.Asp599Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755775"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000676574.1:c.1539C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503081.1:p.Asp513Glu",
        "hgvsWellDefined": "ENSP00000503081.1:p.Asp513Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000676777.1:c.1539C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504756.1:p.Asp513Glu",
        "hgvsWellDefined": "ENSP00000504756.1:p.Asp513Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1644,
          "referenceAllele": "C",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000676920.1:c.1128C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503814.1:p.Asp376Glu",
        "hgvsWellDefined": "ENSP00000503814.1:p.Asp376Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000677101.1:c.*1175C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503156.1:n.*1175C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000677144.1:c.1539C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503049.1:p.Asp513Glu",
        "hgvsWellDefined": "ENSP00000503049.1:p.Asp513Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2763,
          "referenceAllele": "C",
          "start": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000677485.1:n.2763C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000677588.1:c.1539C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502938.1:p.Asp513Glu",
        "hgvsWellDefined": "ENSP00000502938.1:p.Asp513Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000677652.1:n.1728C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000677734.1:n.1728C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000677793.1:c.1539C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504020.1:p.Asp513Glu",
        "hgvsWellDefined": "ENSP00000504020.1:p.Asp513Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000677801.1:c.1128C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503438.1:p.Asp376Glu",
        "hgvsWellDefined": "ENSP00000503438.1:p.Asp376Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1705,
          "referenceAllele": "C",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000677994.1:n.1705C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000678232.1:n.1728C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1681,
          "referenceAllele": "C",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000678266.1:n.1681C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777914"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1709,
          "referenceAllele": "C",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000678346.1:c.*1175C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504349.1:n.*1175C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000678698.1:c.1128C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503198.1:p.Asp376Glu",
        "hgvsWellDefined": "ENSP00000503198.1:p.Asp376Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1732,
          "referenceAllele": "C",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000678704.1:c.*121C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504589.1:n.*121C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000678892.1:c.1539C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504841.1:p.Asp513Glu",
        "hgvsWellDefined": "ENSP00000504841.1:p.Asp513Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000679173.1:n.1728C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1644,
          "referenceAllele": "C",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000679200.1:c.1128C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503498.1:p.Asp376Glu",
        "hgvsWellDefined": "ENSP00000503498.1:p.Asp376Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000679244.1:c.1539C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504656.1:p.Asp513Glu",
        "hgvsWellDefined": "ENSP00000504656.1:p.Asp513Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1770,
          "referenceAllele": "C",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000222399.10:c.1539C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222399.6:p.Asp513Glu",
        "hgvsWellDefined": "ENSP00000222399.6:p.Asp513Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000393560.5:c.1539C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377190.1:p.Asp513Glu",
        "hgvsWellDefined": "ENSP00000377190.1:p.Asp513Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1796,
          "referenceAllele": "C",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "ENST00000393561.5:c.1611C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377191.1:p.Asp537Glu",
        "hgvsWellDefined": "ENSP00000377191.1:p.Asp537Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1874,
          "referenceAllele": "C",
          "start": 1873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "NM_002291.2:c.1539C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002282.2:p.Asp513Glu",
        "hgvsWellDefined": "NP_002282.2:p.Asp513Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "XM_011516203.1:c.1539C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514505.1:p.Asp513Glu",
        "hgvsWellDefined": "XP_011514505.1:p.Asp513Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2342,
          "referenceAllele": "C",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "XM_017012201.1:c.1611C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867690.1:p.Asp537Glu",
        "hgvsWellDefined": "XP_016867690.1:p.Asp537Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2342,
          "referenceAllele": "C",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "XM_017012202.1:c.1611C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867691.1:p.Asp537Glu",
        "hgvsWellDefined": "XP_016867691.1:p.Asp537Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2342,
          "referenceAllele": "C",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "XR_001744756.1:n.2342C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "NM_002291.3:c.1539C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002282.2:p.Asp513Glu",
        "hgvsWellDefined": "NP_002282.2:p.Asp513Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665454",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222399.11:c.1539C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002291.3:c.1539C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222399.6:p.Asp513Glu"
          },
          "RefSeq": {
            "hgvs": "NP_002282.2:p.Asp513Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}