{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA402344831", "communityStandardTitle": [ "NM_020964.3(EPG5):c.5398G>C (p.Gly1800Arg)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.43462359C>G?assembly=hg19", "id": "chr18:g.43462359C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.45882394C>G?assembly=hg38", "id": "chr18:g.45882394C>G" } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "G", "end": 45882394, "referenceAllele": "C", "start": 45882393 } ], "hgvs": [ "NC_000018.10:g.45882394C>G", "CM000680.2:g.45882394C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "G", "end": 43462359, "referenceAllele": "C", "start": 43462358 } ], "hgvs": [ "NC_000018.9:g.43462359C>G", "CM000680.1:g.43462359C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "G", "end": 41716357, "referenceAllele": "C", "start": 41716356 } ], "hgvs": [ "NC_000018.8:g.41716357C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "C", "end": 89946, "referenceAllele": "G", "start": 89945 } ], "hgvs": [ "NG_042838.1:g.89946G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS006040" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 3659, "referenceAllele": "G", "start": 3658 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000586655.2:n.3659G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS906064" }, { "coordinates": [ { "allele": "C", "end": 5524, "referenceAllele": "G", "start": 5523 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000587884.2:c.5524G>C" ], "proteinEffect": { "hgvs": "ENSP00000466990.2:n.5524G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS906074" }, { "coordinates": [ { "allele": "C", "end": 1263, "referenceAllele": "G", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000587973.2:n.1263G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS906075" }, { "coordinates": [ { "allele": "C", "end": 5342, "referenceAllele": "G", "start": 5341 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000590884.6:c.5342G>C" ], "proteinEffect": { "hgvs": "ENSP00000466403.2:p.Gly1781Ala", "hgvsWellDefined": "ENSP00000466403.2:p.Gly1781Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS906104" }, { "coordinates": [ { "allele": "C", "end": 5398, "referenceAllele": "G", "start": 5397 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000592272.6:c.5398G>C" ], "proteinEffect": { "hgvs": "ENSP00000467464.2:p.Gly1800Arg", "hgvsWellDefined": "ENSP00000467464.2:p.Gly1800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS906112" }, { "coordinates": [ { "allele": "C", "end": 2030, "referenceAllele": "G", "start": 2029 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696481.1:n.2030G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS907933" }, { "coordinates": [ { "allele": "C", "end": 5138, "referenceAllele": "G", "start": 5137 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696482.1:c.5138G>C" ], "proteinEffect": { "hgvs": "ENSP00000512656.1:n.5138G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS907934" }, { "coordinates": [ { "allele": "C", "end": 5486, "referenceAllele": "G", "start": 5485 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696483.1:c.5398G>C" ], "proteinEffect": { "hgvs": "ENSP00000512657.1:p.Gly1800Arg", "hgvsWellDefined": "ENSP00000512657.1:p.Gly1800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS907935" }, { "coordinates": [ { "allele": "C", "end": 5486, "referenceAllele": "G", "start": 5485 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696484.1:c.5398G>C" ], "proteinEffect": { "hgvs": "ENSP00000512658.1:p.Gly1800Arg", "hgvsWellDefined": "ENSP00000512658.1:p.Gly1800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS907936" }, { "coordinates": [ { "allele": "C", "end": 5430, "referenceAllele": "G", "start": 5429 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696485.1:c.5342G>C" ], "proteinEffect": { "hgvs": "ENSP00000512659.1:p.Gly1781Ala", "hgvsWellDefined": "ENSP00000512659.1:p.Gly1781Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS907937" }, { "coordinates": [ { "allele": "C", "end": 5398, "referenceAllele": "G", "start": 5397 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696489.1:c.5398G>C" ], "proteinEffect": { "hgvs": "ENSP00000512660.1:p.Gly1800Arg", "hgvsWellDefined": "ENSP00000512660.1:p.Gly1800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS907939" }, { "coordinates": [ { "allele": "C", "end": 5486, "referenceAllele": "G", "start": 5485 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696490.1:c.5398G>C" ], "proteinEffect": { "hgvs": "ENSP00000512661.1:p.Gly1800Arg", "hgvsWellDefined": "ENSP00000512661.1:p.Gly1800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS907940" }, { "coordinates": [ { "allele": "C", "end": 5488, "referenceAllele": "G", "start": 5487 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000282041.11:c.5398G>C" ], "proteinEffect": { "hgvs": "ENSP00000282041.4:p.Gly1800Arg", "hgvsWellDefined": "ENSP00000282041.4:p.Gly1800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS743640", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282041.11:c.5398G>C" }, "RefSeq": { "hgvs": "NM_020964.3:c.5398G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282041.4:p.Gly1800Arg" }, "RefSeq": { "hgvs": "NP_066015.2:p.Gly1800Arg" } } } }, { "coordinates": [ { "allele": "C", "end": 5433, "referenceAllele": "G", "start": 5432 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000282041.9:c.5398G>C" ], "proteinEffect": { "hgvs": "ENSP00000282041.4:p.Gly1800Arg", "hgvsWellDefined": "ENSP00000282041.4:p.Gly1800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS253043" }, { "coordinates": [ { "allele": "C", "end": 2177, "referenceAllele": "G", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000585906.5:n.2177G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS389024" }, { "coordinates": [ { "allele": "C", "end": 2157, "referenceAllele": "G", "start": 2156 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000587884.1:c.*1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000466990.1:n.*1138G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS390394" }, { "coordinates": [ { "allele": "C", "end": 1975, "referenceAllele": "G", "start": 1974 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000590884.5:c.1967G>C" ], "proteinEffect": { "hgvs": "ENSP00000466403.1:p.Gly656Ala", "hgvsWellDefined": "ENSP00000466403.1:p.Gly656Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS392506" }, { "coordinates": [ { "allele": "C", "end": 2031, "referenceAllele": "G", "start": 2030 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000592272.5:c.2023G>C" ], "proteinEffect": { "hgvs": "ENSP00000467464.1:p.Gly675Arg", "hgvsWellDefined": "ENSP00000467464.1:p.Gly675Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS393448" }, { "coordinates": [ { "allele": "C", "end": 5498, "referenceAllele": "G", "start": 5497 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "NM_020964.2:c.5398G>C" ], "proteinEffect": { "hgvs": "NP_066015.2:p.Gly1800Arg", "hgvsWellDefined": "NP_066015.2:p.Gly1800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS036728" }, { "coordinates": [ { "allele": "C", "end": 5525, "referenceAllele": "G", "start": 5524 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526120.1:c.5425G>C" ], "proteinEffect": { "hgvs": "XP_011524422.1:p.Gly1809Arg", "hgvsWellDefined": "XP_011524422.1:p.Gly1809Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS093227" }, { "coordinates": [ { "allele": "C", "end": 5525, "referenceAllele": "G", "start": 5524 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526121.1:c.5425G>C" ], "proteinEffect": { "hgvs": "XP_011524423.1:p.Gly1809Arg", "hgvsWellDefined": "XP_011524423.1:p.Gly1809Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS093228" }, { "coordinates": [ { "allele": "C", "end": 5498, "referenceAllele": "G", "start": 5497 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526122.1:c.5398G>C" ], "proteinEffect": { "hgvs": "XP_011524424.1:p.Gly1800Arg", "hgvsWellDefined": "XP_011524424.1:p.Gly1800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS093229" }, { "coordinates": [ { "allele": "C", "end": 5525, "referenceAllele": "G", "start": 5524 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526123.1:c.5425G>C" ], "proteinEffect": { "hgvs": "XP_011524425.1:p.Gly1809Arg", "hgvsWellDefined": "XP_011524425.1:p.Gly1809Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS093230" }, { "coordinates": [ { "allele": "C", "end": 5525, "referenceAllele": "G", "start": 5524 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526124.1:c.5425G>C" ], "proteinEffect": { "hgvs": "XP_011524426.1:p.Gly1809Arg", "hgvsWellDefined": "XP_011524426.1:p.Gly1809Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS093231" }, { "coordinates": [ { "allele": "C", "end": 5384, "referenceAllele": "G", "start": 5383 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526125.1:c.5284G>C" ], "proteinEffect": { "hgvs": "XP_011524427.1:p.Gly1762Arg", "hgvsWellDefined": "XP_011524427.1:p.Gly1762Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS093232" }, { "coordinates": [ { "allele": "C", "end": 5548, "referenceAllele": "G", "start": 5547 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526126.1:c.4360G>C" ], "proteinEffect": { "hgvs": "XP_011524428.1:p.Gly1454Arg", "hgvsWellDefined": "XP_011524428.1:p.Gly1454Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS093233" }, { "coordinates": [ { "allele": "C", "end": 5525, "referenceAllele": "G", "start": 5524 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526127.1:c.5425G>C" ], "proteinEffect": { "hgvs": "XP_011524429.1:p.Gly1809Arg", "hgvsWellDefined": "XP_011524429.1:p.Gly1809Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS093234" }, { "coordinates": [ { "allele": "C", "end": 5469, "referenceAllele": "G", "start": 5468 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526128.1:c.5369G>C" ], "proteinEffect": { "hgvs": "XP_011524430.1:p.Gly1790Ala", "hgvsWellDefined": "XP_011524430.1:p.Gly1790Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS093235" }, { "coordinates": [ { "allele": "C", "end": 5498, "referenceAllele": "G", "start": 5497 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_935244.1:n.5498G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS130512" }, { "coordinates": [ { "allele": "C", "end": 5488, "referenceAllele": "G", "start": 5487 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "NM_020964.3:c.5398G>C" ], "proteinEffect": { "hgvs": "NP_066015.2:p.Gly1800Arg", "hgvsWellDefined": "NP_066015.2:p.Gly1800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS526024", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282041.11:c.5398G>C" }, "RefSeq": { "hgvs": "NM_020964.3:c.5398G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282041.4:p.Gly1800Arg" }, "RefSeq": { "hgvs": "NP_066015.2:p.Gly1800Arg" } } } }, { "coordinates": [ { "allele": "C", "end": 5480, "referenceAllele": "G", "start": 5479 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025889.1:c.5398G>C" ], "proteinEffect": { "hgvs": "XP_016881378.1:p.Gly1800Arg", "hgvsWellDefined": "XP_016881378.1:p.Gly1800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS576123" }, { "coordinates": [ { "allele": "C", "end": 5480, "referenceAllele": "G", "start": 5479 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025890.2:c.5398G>C" ], "proteinEffect": { "hgvs": "XP_016881379.1:p.Gly1800Arg", "hgvsWellDefined": "XP_016881379.1:p.Gly1800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS576124" }, { "coordinates": [ { "allele": "C", "end": 5357, "referenceAllele": "G", "start": 5356 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025891.1:c.5257G>C" ], "proteinEffect": { "hgvs": "XP_016881380.1:p.Gly1753Arg", "hgvsWellDefined": "XP_016881380.1:p.Gly1753Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS576125" }, { "coordinates": [ { "allele": "C", "end": 5523, "referenceAllele": "G", "start": 5522 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025892.1:c.4333G>C" ], "proteinEffect": { "hgvs": "XP_016881381.1:p.Gly1445Arg", "hgvsWellDefined": "XP_016881381.1:p.Gly1445Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS576126" }, { "coordinates": [ { "allele": "C", "end": 3370, "referenceAllele": "G", "start": 3369 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025893.1:c.2023G>C" ], "proteinEffect": { "hgvs": "XP_016881382.1:p.Gly675Arg", "hgvsWellDefined": "XP_016881382.1:p.Gly675Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS576127" }, { "coordinates": [ { "allele": "C", "end": 5480, "referenceAllele": "G", "start": 5479 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_001753256.1:n.5480G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS599808" }, { "coordinates": [ { "allele": "C", "end": 5424, "referenceAllele": "G", "start": 5423 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_001753257.1:n.5424G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS599809" } ], "type": "nucleotide" }