{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA420750865",
  "communityStandardTitle": [
    "NM_001330723.2(SNX27):c.1005T>C (p.Asn335=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2066576[alleleid]",
        "alleleId": 2066576,
        "preferredName": "NM_001330723.2(SNX27):c.1005T>C (p.Asn335=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2008626",
        "RCV": [
          "RCV002828758"
        ],
        "variationId": 2008626
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.151640967T>C?assembly=hg19",
        "id": "chr1:g.151640967T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1670312853",
        "rs": 1670312853
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-151668491-T-C?dataset=gnomad_r4",
        "id": "1-151668491-T-C",
        "variant": "1:151668491 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 151668491,
          "referenceAllele": "T",
          "start": 151668490
        }
      ],
      "hgvs": [
        "NC_000001.11:g.151668491T>C",
        "CM000663.2:g.151668491T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 151640967,
          "referenceAllele": "T",
          "start": 151640966
        }
      ],
      "hgvs": [
        "NC_000001.10:g.151640967T>C",
        "CM000663.1:g.151640967T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 149907591,
          "referenceAllele": "T",
          "start": 149907590
        }
      ],
      "hgvs": [
        "NC_000001.9:g.149907591T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 602,
          "referenceAllele": "T",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000368838.2:c.602T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS750297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "referenceAllele": "T",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000368841.7:c.*676T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357834.2:n.*676T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "referenceAllele": "T",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000368843.8:c.1005T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357836.3:p.Asn335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1157,
          "referenceAllele": "T",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000458013.7:c.1005T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400333.2:p.Asn335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756615",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000458013.7:c.1005T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001330723.2:c.1005T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400333.2:p.Asn335="
          },
          "RefSeq": {
            "hgvs": "NP_001317652.1:p.Asn335="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 328,
          "referenceAllele": "T",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000482791.2:c.328T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 739,
          "referenceAllele": "T",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000642349.1:c.739T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494331.1:n.739T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 838,
          "referenceAllele": "T",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000642376.1:c.642T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496645.1:p.Asn214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "T",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000642479.1:c.*383T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496775.1:n.*383T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 813,
          "referenceAllele": "T",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000643179.1:n.813T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 683,
          "referenceAllele": "T",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000643937.1:n.683T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 689,
          "referenceAllele": "T",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000644113.1:n.689T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1003,
          "referenceAllele": "T",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000644970.1:n.1003T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 726,
          "referenceAllele": "T",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000647328.1:n.726T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 726,
          "referenceAllele": "T",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000368838.1:c.726T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357831.1:p.Asn242="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1011,
          "referenceAllele": "T",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000368841.6:c.*676T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357834.2:n.*676T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1125,
          "referenceAllele": "T",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000368843.7:c.1005T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357836.3:p.Asn335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1125,
          "referenceAllele": "T",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000458013.6:c.1005T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400333.2:p.Asn335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 126,
          "referenceAllele": "T",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000482791.1:n.126T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830061563",
      "coordinates": [
        {
          "allele": "C",
          "end": 1021,
          "referenceAllele": "T",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "NM_030918.5:c.1005T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_112180.4:p.Asn335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1117,
          "referenceAllele": "T",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_005245509.1:c.1005T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245566.1:p.Asn335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "referenceAllele": "T",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_005245510.2:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245567.1:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1092,
          "referenceAllele": "T",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_005245511.3:c.447T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245568.1:p.Asn149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "T",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_011510024.1:c.702T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508326.1:p.Asn234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077289"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 718,
          "referenceAllele": "T",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_011510025.1:c.642T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508327.1:p.Asn214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1117,
          "referenceAllele": "T",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_011510026.1:c.1005T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508328.1:p.Asn335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077291"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827344316",
      "coordinates": [
        {
          "allele": "C",
          "end": 1021,
          "referenceAllele": "T",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "NM_001330723.1:c.1005T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317652.1:p.Asn335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 753,
          "referenceAllele": "T",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_005245510.3:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245567.1:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1049,
          "referenceAllele": "T",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_005245511.4:c.447T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245568.1:p.Asn149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 864,
          "referenceAllele": "T",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_011510024.2:c.702T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508326.1:p.Asn234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "T",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_011510025.2:c.642T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508327.1:p.Asn214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1117,
          "referenceAllele": "T",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_011510026.2:c.1005T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508328.1:p.Asn335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "T",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_017002417.1:c.642T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857906.1:p.Asn214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558376"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "referenceAllele": "T",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_024450038.1:c.447T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305806.1:p.Asn149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 630,
          "referenceAllele": "T",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_024450039.1:c.447T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305807.1:p.Asn149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827344316",
      "coordinates": [
        {
          "allele": "C",
          "end": 1157,
          "referenceAllele": "T",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "NM_001330723.2:c.1005T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317652.1:p.Asn335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000458013.7:c.1005T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001330723.2:c.1005T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400333.2:p.Asn335="
          },
          "RefSeq": {
            "hgvs": "NP_001317652.1:p.Asn335="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830061563",
      "coordinates": [
        {
          "allele": "C",
          "end": 1157,
          "referenceAllele": "T",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "NM_030918.6:c.1005T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_112180.4:p.Asn335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698899"
    }
  ],
  "type": "nucleotide"
}