{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354830892",
  "communityStandardTitle": [
    "NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3714371",
        "active": true,
        "id": "COSM3714371"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=621042[alleleid]",
        "alleleId": 621042,
        "preferredName": "NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/632608",
        "RCV": [
          "RCV000790524",
          "RCV001003505"
        ],
        "variationId": 632608
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.142403154G>A?assembly=hg19",
        "id": "chr3:g.142403154G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.142684312G>A?assembly=hg38",
        "id": "chr3:g.142684312G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1577888985",
        "rs": 1577888985
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-142684312-G-A?dataset=gnomad_r4",
        "id": "3-142684312-G-A",
        "variant": "3:142684312 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 142684312,
          "referenceAllele": "G",
          "start": 142684311
        }
      ],
      "hgvs": [
        "NC_000003.12:g.142684312G>A",
        "CM000665.2:g.142684312G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 142403154,
          "referenceAllele": "G",
          "start": 142403153
        }
      ],
      "hgvs": [
        "NC_000003.11:g.142403154G>A",
        "CM000665.1:g.142403154G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 143885844,
          "referenceAllele": "G",
          "start": 143885843
        }
      ],
      "hgvs": [
        "NC_000003.10:g.143885844G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 958,
          "referenceAllele": "G",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "ENST00000457734.7:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387890.2:p.Glu269Lys",
        "hgvsWellDefined": "ENSP00000387890.2:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756607",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000457734.7:c.805G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001145319.2:c.805G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387890.2:p.Glu269Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001138791.1:p.Glu269Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "referenceAllele": "G",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "ENST00000337777.7:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336831.3:p.Glu269Lys",
        "hgvsWellDefined": "ENSP00000336831.3:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "ENST00000457734.6:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387890.2:p.Glu269Lys",
        "hgvsWellDefined": "ENSP00000387890.2:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 807,
          "referenceAllele": "G",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "ENST00000476044.5:c.568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417481.1:p.Glu190Lys",
        "hgvsWellDefined": "ENSP00000417481.1:p.Glu190Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1125,
          "referenceAllele": "G",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "ENST00000497002.1:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418700.1:p.Glu269Lys",
        "hgvsWellDefined": "ENSP00000418700.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825888771",
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "NM_001145319.1:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138791.1:p.Glu269Lys",
        "hgvsWellDefined": "NP_001138791.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826063069",
      "coordinates": [
        {
          "allele": "A",
          "end": 1125,
          "referenceAllele": "G",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "NM_001172312.1:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165783.1:p.Glu269Lys",
        "hgvsWellDefined": "NP_001165783.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916001654",
      "coordinates": [
        {
          "allele": "A",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "NM_002670.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002661.2:p.Glu269Lys",
        "hgvsWellDefined": "NP_002661.2:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "G",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "XM_006713660.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713723.1:p.Glu269Lys",
        "hgvsWellDefined": "XP_006713723.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "XM_011512900.1:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511202.1:p.Glu269Lys",
        "hgvsWellDefined": "XP_011511202.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1204,
          "referenceAllele": "G",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "XM_011512901.1:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511203.1:p.Glu269Lys",
        "hgvsWellDefined": "XP_011511203.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "XM_011512902.1:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511204.1:p.Glu269Lys",
        "hgvsWellDefined": "XP_011511204.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1003,
          "referenceAllele": "G",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "XM_011512903.1:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511205.1:p.Glu269Lys",
        "hgvsWellDefined": "XP_011511205.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1275,
          "referenceAllele": "G",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "XM_006713660.3:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713723.1:p.Glu269Lys",
        "hgvsWellDefined": "XP_006713723.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "referenceAllele": "G",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "XM_011512900.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511202.1:p.Glu269Lys",
        "hgvsWellDefined": "XP_011511202.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "referenceAllele": "G",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "XM_011512903.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511205.1:p.Glu269Lys",
        "hgvsWellDefined": "XP_011511205.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542717"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1447,
          "referenceAllele": "G",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "XM_017006626.1:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862115.1:p.Glu269Lys",
        "hgvsWellDefined": "XP_016862115.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "XM_017006627.1:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862116.1:p.Glu269Lys",
        "hgvsWellDefined": "XP_016862116.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825888771",
      "coordinates": [
        {
          "allele": "A",
          "end": 958,
          "referenceAllele": "G",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "NM_001145319.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138791.1:p.Glu269Lys",
        "hgvsWellDefined": "NP_001138791.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663768",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000457734.7:c.805G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001145319.2:c.805G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387890.2:p.Glu269Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001138791.1:p.Glu269Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916001654",
      "coordinates": [
        {
          "allele": "A",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "NM_002670.3:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002661.2:p.Glu269Lys",
        "hgvsWellDefined": "NP_002661.2:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826063069",
      "coordinates": [
        {
          "allele": "A",
          "end": 1125,
          "referenceAllele": "G",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009090",
      "geneNCBI_id": 5357,
      "geneSymbol": "PLS1",
      "hgvs": [
        "NM_001172312.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165783.1:p.Glu269Lys",
        "hgvsWellDefined": "NP_001165783.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713420"
    }
  ],
  "type": "nucleotide"
}