{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA402344569", "communityStandardTitle": [ "NM_020964.3(EPG5):c.5512A>G (p.Met1838Val)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.43462245T>C?assembly=hg19", "id": "chr18:g.43462245T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.45882280T>C?assembly=hg38", "id": "chr18:g.45882280T>C" } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "C", "end": 45882280, "referenceAllele": "T", "start": 45882279 } ], "hgvs": [ "NC_000018.10:g.45882280T>C", "CM000680.2:g.45882280T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "C", "end": 43462245, "referenceAllele": "T", "start": 43462244 } ], "hgvs": [ "NC_000018.9:g.43462245T>C", "CM000680.1:g.43462245T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "C", "end": 41716243, "referenceAllele": "T", "start": 41716242 } ], "hgvs": [ "NC_000018.8:g.41716243T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "G", "end": 90060, "referenceAllele": "A", "start": 90059 } ], "hgvs": [ "NG_042838.1:g.90060A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS006040" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3773, "referenceAllele": "A", "start": 3772 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000586655.2:n.3773A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS906064" }, { "coordinates": [ { "allele": "G", "end": 5638, "referenceAllele": "A", "start": 5637 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000587884.2:c.5638A>G" ], "proteinEffect": { "hgvs": "ENSP00000466990.2:n.5638A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS906074" }, { "coordinates": [ { "allele": "G", "end": 1377, "referenceAllele": "A", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000587973.2:n.1377A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS906075" }, { "coordinates": [ { "allele": "G", "end": 5456, "referenceAllele": "A", "start": 5455 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000590884.6:c.5456A>G" ], "proteinEffect": { "hgvs": "ENSP00000466403.2:n.5456A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS906104" }, { "coordinates": [ { "allele": "G", "end": 5512, "referenceAllele": "A", "start": 5511 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000592272.6:c.5512A>G" ], "proteinEffect": { "hgvs": "ENSP00000467464.2:p.Met1838Val", "hgvsWellDefined": "ENSP00000467464.2:p.Met1838Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS906112" }, { "coordinates": [ { "allele": "G", "end": 2144, "referenceAllele": "A", "start": 2143 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696481.1:n.2144A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS907933" }, { "coordinates": [ { "allele": "G", "end": 5252, "referenceAllele": "A", "start": 5251 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696482.1:c.5252A>G" ], "proteinEffect": { "hgvs": "ENSP00000512656.1:n.5252A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS907934" }, { "coordinates": [ { "allele": "G", "end": 5600, "referenceAllele": "A", "start": 5599 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696483.1:c.5512A>G" ], "proteinEffect": { "hgvs": "ENSP00000512657.1:p.Met1838Val", "hgvsWellDefined": "ENSP00000512657.1:p.Met1838Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS907935" }, { "coordinates": [ { "allele": "G", "end": 5600, "referenceAllele": "A", "start": 5599 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696484.1:c.5512A>G" ], "proteinEffect": { "hgvs": "ENSP00000512658.1:p.Met1838Val", "hgvsWellDefined": "ENSP00000512658.1:p.Met1838Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS907936" }, { "coordinates": [ { "allele": "G", "end": 5544, "referenceAllele": "A", "start": 5543 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696485.1:c.*107A>G" ], "proteinEffect": { "hgvs": "ENSP00000512659.1:n.*107A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS907937" }, { "coordinates": [ { "allele": "G", "end": 5512, "referenceAllele": "A", "start": 5511 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696489.1:c.5512A>G" ], "proteinEffect": { "hgvs": "ENSP00000512660.1:p.Met1838Val", "hgvsWellDefined": "ENSP00000512660.1:p.Met1838Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS907939" }, { "coordinates": [ { "allele": "G", "end": 5600, "referenceAllele": "A", "start": 5599 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696490.1:c.5512A>G" ], "proteinEffect": { "hgvs": "ENSP00000512661.1:p.Met1838Val", "hgvsWellDefined": "ENSP00000512661.1:p.Met1838Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS907940" }, { "coordinates": [ { "allele": "G", "end": 5602, "referenceAllele": "A", "start": 5601 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000282041.11:c.5512A>G" ], "proteinEffect": { "hgvs": "ENSP00000282041.4:p.Met1838Val", "hgvsWellDefined": "ENSP00000282041.4:p.Met1838Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS743640", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282041.11:c.5512A>G" }, "RefSeq": { "hgvs": "NM_020964.3:c.5512A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282041.4:p.Met1838Val" }, "RefSeq": { "hgvs": "NP_066015.2:p.Met1838Val" } } } }, { "coordinates": [ { "allele": "G", "end": 5547, "referenceAllele": "A", "start": 5546 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000282041.9:c.5512A>G" ], "proteinEffect": { "hgvs": "ENSP00000282041.4:p.Met1838Val", "hgvsWellDefined": "ENSP00000282041.4:p.Met1838Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS253043" }, { "coordinates": [ { "allele": "G", "end": 2291, "referenceAllele": "A", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000585906.5:n.2291A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS389024" }, { "coordinates": [ { "allele": "G", "end": 2271, "referenceAllele": "A", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000587884.1:c.*1252A>G" ], "proteinEffect": { "hgvs": "ENSP00000466990.1:n.*1252A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS390394" }, { "coordinates": [ { "allele": "G", "end": 2089, "referenceAllele": "A", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000590884.5:c.*107A>G" ], "proteinEffect": { "hgvs": "ENSP00000466403.1:n.*107A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS392506" }, { "coordinates": [ { "allele": "G", "end": 2145, "referenceAllele": "A", "start": 2144 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000592272.5:c.2137A>G" ], "proteinEffect": { "hgvs": "ENSP00000467464.1:p.Met713Val", "hgvsWellDefined": "ENSP00000467464.1:p.Met713Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS393448" }, { "coordinates": [ { "allele": "G", "end": 5612, "referenceAllele": "A", "start": 5611 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "NM_020964.2:c.5512A>G" ], "proteinEffect": { "hgvs": "NP_066015.2:p.Met1838Val", "hgvsWellDefined": "NP_066015.2:p.Met1838Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS036728" }, { "coordinates": [ { "allele": "G", "end": 5639, "referenceAllele": "A", "start": 5638 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526120.1:c.5539A>G" ], "proteinEffect": { "hgvs": "XP_011524422.1:p.Met1847Val", "hgvsWellDefined": "XP_011524422.1:p.Met1847Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS093227" }, { "coordinates": [ { "allele": "G", "end": 5639, "referenceAllele": "A", "start": 5638 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526121.1:c.5539A>G" ], "proteinEffect": { "hgvs": "XP_011524423.1:p.Met1847Val", "hgvsWellDefined": "XP_011524423.1:p.Met1847Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS093228" }, { "coordinates": [ { "allele": "G", "end": 5612, "referenceAllele": "A", "start": 5611 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526122.1:c.5512A>G" ], "proteinEffect": { "hgvs": "XP_011524424.1:p.Met1838Val", "hgvsWellDefined": "XP_011524424.1:p.Met1838Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS093229" }, { "coordinates": [ { "allele": "G", "end": 5639, "referenceAllele": "A", "start": 5638 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526123.1:c.5539A>G" ], "proteinEffect": { "hgvs": "XP_011524425.1:p.Met1847Val", "hgvsWellDefined": "XP_011524425.1:p.Met1847Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS093230" }, { "coordinates": [ { "allele": "G", "end": 5639, "referenceAllele": "A", "start": 5638 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526124.1:c.5539A>G" ], "proteinEffect": { "hgvs": "XP_011524426.1:p.Met1847Val", "hgvsWellDefined": "XP_011524426.1:p.Met1847Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS093231" }, { "coordinates": [ { "allele": "G", "end": 5498, "referenceAllele": "A", "start": 5497 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526125.1:c.5398A>G" ], "proteinEffect": { "hgvs": "XP_011524427.1:p.Met1800Val", "hgvsWellDefined": "XP_011524427.1:p.Met1800Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS093232" }, { "coordinates": [ { "allele": "G", "end": 5662, "referenceAllele": "A", "start": 5661 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526126.1:c.4474A>G" ], "proteinEffect": { "hgvs": "XP_011524428.1:p.Met1492Val", "hgvsWellDefined": "XP_011524428.1:p.Met1492Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS093233" }, { "coordinates": [ { "allele": "G", "end": 5639, "referenceAllele": "A", "start": 5638 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526127.1:c.5539A>G" ], "proteinEffect": { "hgvs": "XP_011524429.1:p.Met1847Val", "hgvsWellDefined": "XP_011524429.1:p.Met1847Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS093234" }, { "coordinates": [ { "allele": "G", "end": 5612, "referenceAllele": "A", "start": 5611 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_935244.1:n.5612A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS130512" }, { "coordinates": [ { "allele": "G", "end": 5602, "referenceAllele": "A", "start": 5601 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "NM_020964.3:c.5512A>G" ], "proteinEffect": { "hgvs": "NP_066015.2:p.Met1838Val", "hgvsWellDefined": "NP_066015.2:p.Met1838Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS526024", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282041.11:c.5512A>G" }, "RefSeq": { "hgvs": "NM_020964.3:c.5512A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282041.4:p.Met1838Val" }, "RefSeq": { "hgvs": "NP_066015.2:p.Met1838Val" } } } }, { "coordinates": [ { "allele": "G", "end": 5594, "referenceAllele": "A", "start": 5593 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025889.1:c.5512A>G" ], "proteinEffect": { "hgvs": "XP_016881378.1:p.Met1838Val", "hgvsWellDefined": "XP_016881378.1:p.Met1838Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS576123" }, { "coordinates": [ { "allele": "G", "end": 5594, "referenceAllele": "A", "start": 5593 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025890.2:c.5512A>G" ], "proteinEffect": { "hgvs": "XP_016881379.1:p.Met1838Val", "hgvsWellDefined": "XP_016881379.1:p.Met1838Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS576124" }, { "coordinates": [ { "allele": "G", "end": 5471, "referenceAllele": "A", "start": 5470 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025891.1:c.5371A>G" ], "proteinEffect": { "hgvs": "XP_016881380.1:p.Met1791Val", "hgvsWellDefined": "XP_016881380.1:p.Met1791Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS576125" }, { "coordinates": [ { "allele": "G", "end": 5637, "referenceAllele": "A", "start": 5636 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025892.1:c.4447A>G" ], "proteinEffect": { "hgvs": "XP_016881381.1:p.Met1483Val", "hgvsWellDefined": "XP_016881381.1:p.Met1483Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS576126" }, { "coordinates": [ { "allele": "G", "end": 3484, "referenceAllele": "A", "start": 3483 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025893.1:c.2137A>G" ], "proteinEffect": { "hgvs": "XP_016881382.1:p.Met713Val", "hgvsWellDefined": "XP_016881382.1:p.Met713Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS576127" }, { "coordinates": [ { "allele": "G", "end": 5594, "referenceAllele": "A", "start": 5593 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_001753256.1:n.5594A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS599808" }, { "coordinates": [ { "allele": "G", "end": 5538, "referenceAllele": "A", "start": 5537 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_001753257.1:n.5538A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS599809" } ], "type": "nucleotide" }