{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1356010546", "communityStandardTitle": [ "NM_000404.4(GLB1):c.202C= (p.Arg68=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/72555370", "rs": 72555370 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 33072587, "referenceAllele": "G", "start": 33072586 } ], "hgvs": [ "NC_000003.12:g.33072587G=", "CM000665.2:g.33072587G=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 33114079, "referenceAllele": "G", "start": 33114078 } ], "hgvs": [ "NC_000003.11:g.33114079G=", "CM000665.1:g.33114079G=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 33089083, "referenceAllele": "G", "start": 33089082 } ], "hgvs": [ "NC_000003.10:g.33089083G=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "C", "end": 29616, "referenceAllele": "C", "start": 29615 } ], "hgvs": [ "NG_009005.1:g.29616C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001373" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 263, "referenceAllele": "C", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000307363.10:c.202C=" ], "proteinEffect": { "hgvs": "ENSP00000306920.4:p.Arg68=" }, "referenceSequence": "http://reg.genome.network/refseq/RS745364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000307363.10:c.202C=" }, "RefSeq": { "hgvs": "NM_000404.4:c.202C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306920.4:p.Arg68=" }, "RefSeq": { "hgvs": "NP_000395.3:p.Arg68=" } } } }, { "coordinates": [ { "allele": "C", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000307363.9:c.202C=" ], "proteinEffect": { "hgvs": "ENSP00000306920.4:p.Arg68=" }, "referenceSequence": "http://reg.genome.network/refseq/RS255876" }, { "coordinates": [ { "allele": "C", "end": 263, "referenceAllele": "C", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000307377.12:c.202C=" ], "proteinEffect": { "hgvs": "ENSP00000305920.8:p.Arg68=" }, "referenceSequence": "http://reg.genome.network/refseq/RS255881" }, { "coordinates": [ { "allele": "C", "end": 244, "referenceAllele": "C", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000399402.7:c.112C=" ], "proteinEffect": { "hgvs": "ENSP00000382333.2:p.Arg38=" }, "referenceSequence": "http://reg.genome.network/refseq/RS278664" }, { "coordinates": [ { "allele": "C", "end": 111, "endIntronDirection": "-", "endIntronOffset": 14317, "referenceAllele": "C", "start": 111, "startIntronDirection": "-", "startIntronOffset": 14318 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000415454.1:c.76-14318C=" ], "proteinEffect": { "hgvs": "ENSP00000411813.1:n.76-14318C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS283995" }, { "coordinates": [ { "allele": "C", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000436768.1:c.346C=" ], "proteinEffect": { "hgvs": "ENSP00000387989.1:p.Arg116=" }, "referenceSequence": "http://reg.genome.network/refseq/RS294141" }, { "coordinates": [ { "allele": "C", "end": 136, "endIntronDirection": "-", "endIntronOffset": 7029, "referenceAllele": "C", "start": 136, "startIntronDirection": "-", "startIntronOffset": 7030 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000438227.1:c.76-7030C=" ], "proteinEffect": { "hgvs": "ENSP00000401250.1:n.76-7030C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS294824" }, { "coordinates": [ { "allele": "C", "end": 136, "endIntronDirection": "-", "endIntronOffset": 3616, "referenceAllele": "C", "start": 136, "startIntronDirection": "-", "startIntronOffset": 3617 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000440656.1:c.-148-3617C=" ], "proteinEffect": { "hgvs": "ENSP00000411769.1:n.-148-3617C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS296001" }, { "coordinates": [ { "allele": "C", "end": 129, "referenceAllele": "C", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000446732.5:c.112C=" ], "proteinEffect": { "hgvs": "ENSP00000407365.1:p.Arg38=" }, "referenceSequence": "http://reg.genome.network/refseq/RS298869" }, { "coordinates": [ { "allele": "C", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000450835.1:c.112C=" ], "proteinEffect": { "hgvs": "ENSP00000403264.1:p.Arg38=" }, "referenceSequence": "http://reg.genome.network/refseq/RS300893" }, { "coordinates": [ { "allele": "C", "end": 160, "referenceAllele": "C", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000464355.1:n.160C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS308208" }, { "coordinates": [ { "allele": "C", "end": 108, "endIntronDirection": "-", "endIntronOffset": 19037, "referenceAllele": "C", "start": 108, "startIntronDirection": "-", "startIntronOffset": 19038 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000482097.5:n.109-19038C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS321877" }, { "coordinates": [ { "allele": "C", "end": 136, "endIntronDirection": "-", "endIntronOffset": 19037, "referenceAllele": "C", "start": 136, "startIntronDirection": "-", "startIntronOffset": 19038 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000485698.5:n.137-19038C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS324665" }, { "coordinates": [ { "allele": "C", "end": 132, "endIntronDirection": "-", "endIntronOffset": 19037, "referenceAllele": "C", "start": 132, "startIntronDirection": "-", "startIntronOffset": 19038 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000498537.5:n.133-19038C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS334527" }, { "coordinates": [ { "allele": "C", "end": 319, "referenceAllele": "C", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.2:c.202C=" ], "proteinEffect": { "hgvs": "NP_000395.2:p.Arg68=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006465" }, { "coordinates": [ { "allele": "C", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.3:c.202C=" ], "proteinEffect": { "hgvs": "NP_000395.2:p.Arg68=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006466" }, { "coordinates": [ { "allele": "C", "end": 231, "referenceAllele": "C", "start": 230 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.1:c.112C=" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Arg38=" }, "referenceSequence": "http://reg.genome.network/refseq/RS010094" }, { "coordinates": [ { "allele": "C", "end": 241, "referenceAllele": "C", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.2:c.112C=" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Arg38=" }, "referenceSequence": "http://reg.genome.network/refseq/RS010095" }, { "coordinates": [ { "allele": "C", "end": 319, "referenceAllele": "C", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.1:c.202C=" ], "proteinEffect": { "hgvs": "NP_001129074.1:p.Arg68=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012431" }, { "coordinates": [ { "allele": "C", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.2:c.202C=" ], "proteinEffect": { "hgvs": "NP_001129074.1:p.Arg68=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012432" }, { "coordinates": [ { "allele": "C", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.1:c.346C=" ], "proteinEffect": { "hgvs": "NP_001303969.1:p.Arg116=" }, "referenceSequence": "http://reg.genome.network/refseq/RS026699" }, { "@id": "http://reg.genome.network/allele/PA2825162127", "coordinates": [ { "allele": "C", "end": 263, "referenceAllele": "C", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.4:c.202C=" ], "proteinEffect": { "hgvs": "NP_000395.3:p.Arg68=" }, "referenceSequence": "http://reg.genome.network/refseq/RS662429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000307363.10:c.202C=" }, "RefSeq": { "hgvs": "NM_000404.4:c.202C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306920.4:p.Arg68=" }, "RefSeq": { "hgvs": "NP_000395.3:p.Arg68=" } } } }, { "@id": "http://reg.genome.network/allele/PA2825444432", "coordinates": [ { "allele": "C", "end": 231, "referenceAllele": "C", "start": 230 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.3:c.112C=" ], "proteinEffect": { "hgvs": "NP_001073279.2:p.Arg38=" }, "referenceSequence": "http://reg.genome.network/refseq/RS711783" }, { "@id": "http://reg.genome.network/allele/PA2825793911", "coordinates": [ { "allele": "C", "end": 263, "referenceAllele": "C", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.3:c.202C=" ], "proteinEffect": { "hgvs": "NP_001129074.2:p.Arg68=" }, "referenceSequence": "http://reg.genome.network/refseq/RS712445" }, { "@id": "http://reg.genome.network/allele/PA2826964512", "coordinates": [ { "allele": "C", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.2:c.346C=" ], "proteinEffect": { "hgvs": "NP_001303969.2:p.Arg116=" }, "referenceSequence": "http://reg.genome.network/refseq/RS717394" }, { "@id": "http://reg.genome.network/allele/PA2829205817", "coordinates": [ { "allele": "C", "end": 263, "referenceAllele": "C", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001393580.1:c.202C=" ], "proteinEffect": { "hgvs": "NP_001380509.1:p.Arg68=" }, "referenceSequence": "http://reg.genome.network/refseq/RS726736" } ], "type": "nucleotide" }