{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1747366711", "communityStandardTitle": [ "NM_001061.7(TBXAS1):c.1441G= (p.Gly481=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199422116", "rs": 199422116 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 140017747, "referenceAllele": "G", "start": 140017746 } ], "hgvs": [ "NC_000007.14:g.140017747G=", "CM000669.2:g.140017747G=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 139717547, "referenceAllele": "G", "start": 139717546 } ], "hgvs": [ "NC_000007.13:g.139717547G=", "CM000669.1:g.139717547G=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 139364016, "referenceAllele": "G", "start": 139364015 } ], "hgvs": [ "NC_000007.12:g.139364016G=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "G", "end": 244366, "referenceAllele": "G", "start": 244365 } ], "hgvs": [ "NG_008422.2:g.244366G=", "LRG_579:g.244366G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001093" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1830, "referenceAllele": "G", "start": 1829 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000336425.10:c.1441G=" ], "proteinEffect": { "hgvs": "ENSP00000338087.7:p.Gly481=" }, "referenceSequence": "http://reg.genome.network/refseq/RS747583" }, { "coordinates": [ { "allele": "G", "end": 1491, "endIntronDirection": "+", "endIntronOffset": 1887, "referenceAllele": "G", "start": 1491, "startIntronDirection": "+", "startIntronOffset": 1886 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000411653.6:c.1364+1887G=" ], "proteinEffect": { "hgvs": "ENSP00000411326.3:n.1364+1887G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS754470" }, { "coordinates": [ { "allele": "G", "end": 1614, "referenceAllele": "G", "start": 1613 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000422328.6:c.*1230G=" ], "proteinEffect": { "hgvs": "ENSP00000415892.3:n.*1230G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS754922" }, { "coordinates": [ { "allele": "G", "end": 1568, "referenceAllele": "G", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000448866.7:c.1441G=" ], "proteinEffect": { "hgvs": "ENSP00000402536.3:p.Gly481=" }, "referenceSequence": "http://reg.genome.network/refseq/RS756198", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000448866.7:c.1441G=" }, "RefSeq": { "hgvs": "NM_001061.7:c.1441G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000402536.3:p.Gly481=" }, "RefSeq": { "hgvs": "NP_001052.3:p.Gly481=" } } } }, { "coordinates": [ { "allele": "G", "end": 1716, "referenceAllele": "G", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000458722.6:c.1579G=" ], "proteinEffect": { "hgvs": "ENSP00000411274.3:p.Gly527=" }, "referenceSequence": "http://reg.genome.network/refseq/RS756661" }, { "coordinates": [ { "allele": "G", "end": 1982, "referenceAllele": "G", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000650822.1:c.1444G=" ], "proteinEffect": { "hgvs": "ENSP00000498517.1:p.Gly482=" }, "referenceSequence": "http://reg.genome.network/refseq/RS771332" }, { "coordinates": [ { "allele": "G", "end": 1602, "endIntronDirection": "+", "endIntronOffset": 1887, "referenceAllele": "G", "start": 1602, "startIntronDirection": "+", "startIntronOffset": 1886 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000652056.1:c.1367+1887G=" ], "proteinEffect": { "hgvs": "ENSP00000498271.1:n.1367+1887G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS772006" }, { "coordinates": [ { "allele": "G", "end": 1982, "referenceAllele": "G", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000263552.10:c.1444G=" ], "proteinEffect": { "hgvs": "ENSP00000263552.6:p.Gly482=" }, "referenceSequence": "http://reg.genome.network/refseq/RS251287" }, { "coordinates": [ { "allele": "G", "end": 1830, "referenceAllele": "G", "start": 1829 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000336425.9:c.1441G=" ], "proteinEffect": { "hgvs": "ENSP00000338087.5:p.Gly481=" }, "referenceSequence": "http://reg.genome.network/refseq/RS260301" }, { "coordinates": [ { "allele": "G", "end": 1491, "endIntronDirection": "+", "endIntronOffset": 1887, "referenceAllele": "G", "start": 1491, "startIntronDirection": "+", "startIntronOffset": 1886 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000411653.5:c.1364+1887G=" ], "proteinEffect": { "hgvs": "ENSP00000411326.1:n.1364+1887G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS282250" }, { "coordinates": [ { "allele": "G", "end": 1602, "endIntronDirection": "+", "endIntronOffset": 1887, "referenceAllele": "G", "start": 1602, "startIntronDirection": "+", "startIntronOffset": 1886 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000414508.6:c.1367+1887G=" ], "proteinEffect": { "hgvs": "ENSP00000392702.2:n.1367+1887G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS283557" }, { "coordinates": [ { "allele": "G", "end": 2120, "referenceAllele": "G", "start": 2119 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000416849.6:c.1582G=" ], "proteinEffect": { "hgvs": "ENSP00000389414.2:p.Gly528=" }, "referenceSequence": "http://reg.genome.network/refseq/RS284655" }, { "coordinates": [ { "allele": "G", "end": 1614, "referenceAllele": "G", "start": 1613 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000422328.5:c.*1230G=" ], "proteinEffect": { "hgvs": "ENSP00000415892.1:n.*1230G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS287221" }, { "coordinates": [ { "allele": "G", "end": 1729, "referenceAllele": "G", "start": 1728 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000425687.5:c.1240G=" ], "proteinEffect": { "hgvs": "ENSP00000388736.1:p.Gly414=" }, "referenceSequence": "http://reg.genome.network/refseq/RS288873" }, { "coordinates": [ { "allele": "G", "end": 1608, "referenceAllele": "G", "start": 1607 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000448866.5:c.1441G=" ], "proteinEffect": { "hgvs": "ENSP00000402536.1:p.Gly481=" }, "referenceSequence": "http://reg.genome.network/refseq/RS299927" }, { "coordinates": [ { "allele": "G", "end": 1716, "referenceAllele": "G", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "ENST00000458722.5:c.1579G=" ], "proteinEffect": { "hgvs": "ENSP00000411274.1:p.Gly527=" }, "referenceSequence": "http://reg.genome.network/refseq/RS304547" }, { "coordinates": [ { "allele": "G", "end": 1679, "referenceAllele": "G", "start": 1678 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001061.4:c.1444G=" ], "proteinEffect": { "hgvs": "NP_001052.2:p.Gly482=" }, "referenceSequence": "http://reg.genome.network/refseq/RS009895" }, { "coordinates": [ { "allele": "G", "end": 1982, "referenceAllele": "G", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001130966.2:c.1444G=", "LRG_579t1:c.1444G=" ], "proteinEffect": { "hgvs": "NP_001124438.1:p.Gly482=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012139" }, { "coordinates": [ { "allele": "G", "end": 1817, "referenceAllele": "G", "start": 1816 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166253.1:c.1582G=", "LRG_579t4:c.1582G=" ], "proteinEffect": { "hgvs": "NP_001159725.1:p.Gly528=" }, "referenceSequence": "http://reg.genome.network/refseq/RS014841" }, { "coordinates": [ { "allele": "G", "end": 1729, "referenceAllele": "G", "start": 1728 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166254.1:c.1240G=", "LRG_579t3:c.1240G=" ], "proteinEffect": { "hgvs": "NP_001159726.1:p.Gly414=" }, "referenceSequence": "http://reg.genome.network/refseq/RS014842" }, { "coordinates": [ { "allele": "G", "end": 1708, "referenceAllele": "G", "start": 1707 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001314028.1:c.1384G=" ], "proteinEffect": { "hgvs": "NP_001300957.1:p.Gly462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS026524" }, { "coordinates": [ { "allele": "G", "end": 1602, "endIntronDirection": "+", "endIntronOffset": 1887, "referenceAllele": "G", "start": 1602, "startIntronDirection": "+", "startIntronOffset": 1886 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_030984.3:c.1367+1887G=", "LRG_579t2:c.1367+1887G=" ], "proteinEffect": { "hgvs": "NP_112246.2:n.1367+1887G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS038535" }, { "coordinates": [ { "allele": "G", "end": 1708, "referenceAllele": "G", "start": 1707 } ], "hgvs": [ "NR_029394.1:c.-4294965588G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS048131" }, { "@id": "http://reg.genome.network/allele/PA3073496907", "coordinates": [ { "allele": "G", "end": 1568, "referenceAllele": "G", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001061.5:c.1441G=" ], "proteinEffect": { "hgvs": "NP_001052.3:p.Gly481=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511198" }, { "coordinates": [ { "allele": "G", "end": 1988, "referenceAllele": "G", "start": 1987 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001130966.3:c.1441G=" ], "proteinEffect": { "hgvs": "NP_001124438.2:p.Gly481=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511467" }, { "coordinates": [ { "allele": "G", "end": 1706, "referenceAllele": "G", "start": 1705 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166253.2:c.1579G=" ], "proteinEffect": { "hgvs": "NP_001159725.2:p.Gly527=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511675" }, { "coordinates": [ { "allele": "G", "end": 1735, "referenceAllele": "G", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166254.2:c.1240G=" ], "proteinEffect": { "hgvs": "NP_001159726.1:p.Gly414=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511676" }, { "coordinates": [ { "allele": "G", "end": 1597, "referenceAllele": "G", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001314028.2:c.1384G=" ], "proteinEffect": { "hgvs": "NP_001300957.1:p.Gly462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS512390" }, { "coordinates": [ { "allele": "G", "end": 1471, "referenceAllele": "G", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001366537.1:c.1258G=" ], "proteinEffect": { "hgvs": "NP_001353466.1:p.Gly420=" }, "referenceSequence": "http://reg.genome.network/refseq/RS524685" }, { "coordinates": [ { "allele": "G", "end": 1491, "endIntronDirection": "+", "endIntronOffset": 1887, "referenceAllele": "G", "start": 1491, "startIntronDirection": "+", "startIntronOffset": 1886 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_030984.4:c.1364+1887G=" ], "proteinEffect": { "hgvs": "NP_112246.3:n.1364+1887G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS526257" }, { "coordinates": [ { "allele": "G", "end": 1295, "referenceAllele": "G", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "XM_024446901.1:c.1186G=" ], "proteinEffect": { "hgvs": "XP_024302669.1:p.Gly396=" }, "referenceSequence": "http://reg.genome.network/refseq/RS580544" }, { "@id": "http://reg.genome.network/allele/PA3073496907", "coordinates": [ { "allele": "G", "end": 1568, "referenceAllele": "G", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001061.7:c.1441G=" ], "proteinEffect": { "hgvs": "NP_001052.3:p.Gly481=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676121", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000448866.7:c.1441G=" }, "RefSeq": { "hgvs": "NM_001061.7:c.1441G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000402536.3:p.Gly481=" }, "RefSeq": { "hgvs": "NP_001052.3:p.Gly481=" } } } }, { "coordinates": [ { "allele": "G", "end": 1988, "referenceAllele": "G", "start": 1987 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001130966.4:c.1441G=" ], "proteinEffect": { "hgvs": "NP_001124438.2:p.Gly481=" }, "referenceSequence": "http://reg.genome.network/refseq/RS677170" }, { "coordinates": [ { "allele": "G", "end": 1706, "referenceAllele": "G", "start": 1705 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166253.3:c.1579G=" ], "proteinEffect": { "hgvs": "NP_001159725.2:p.Gly527=" }, "referenceSequence": "http://reg.genome.network/refseq/RS678475" }, { "coordinates": [ { "allele": "G", "end": 1735, "referenceAllele": "G", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166254.3:c.1240G=" ], "proteinEffect": { "hgvs": "NP_001159726.1:p.Gly414=" }, "referenceSequence": "http://reg.genome.network/refseq/RS678476" }, { "coordinates": [ { "allele": "G", "end": 1597, "referenceAllele": "G", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001314028.3:c.1384G=" ], "proteinEffect": { "hgvs": "NP_001300957.1:p.Gly462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS684127" }, { "coordinates": [ { "allele": "G", "end": 1471, "referenceAllele": "G", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001366537.2:c.1258G=" ], "proteinEffect": { "hgvs": "NP_001353466.1:p.Gly420=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691211" }, { "coordinates": [ { "allele": "G", "end": 1491, "endIntronDirection": "+", "endIntronOffset": 1887, "referenceAllele": "G", "start": 1491, "startIntronDirection": "+", "startIntronOffset": 1886 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_030984.5:c.1364+1887G=" ], "proteinEffect": { "hgvs": "NP_112246.3:n.1364+1887G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS698911" }, { "coordinates": [ { "allele": "G", "end": 1988, "referenceAllele": "G", "start": 1987 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001130966.5:c.1441G=" ], "proteinEffect": { "hgvs": "NP_001124438.2:p.Gly481=" }, "referenceSequence": "http://reg.genome.network/refseq/RS712362" }, { "coordinates": [ { "allele": "G", "end": 1706, "referenceAllele": "G", "start": 1705 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166253.4:c.1579G=" ], "proteinEffect": { "hgvs": "NP_001159725.2:p.Gly527=" }, "referenceSequence": "http://reg.genome.network/refseq/RS713185" }, { "coordinates": [ { "allele": "G", "end": 1735, "referenceAllele": "G", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001166254.4:c.1240G=" ], "proteinEffect": { "hgvs": "NP_001159726.1:p.Gly414=" }, "referenceSequence": "http://reg.genome.network/refseq/RS713186" }, { "coordinates": [ { "allele": "G", "end": 1597, "referenceAllele": "G", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001314028.4:c.1384G=" ], "proteinEffect": { "hgvs": "NP_001300957.1:p.Gly462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS717339" }, { "coordinates": [ { "allele": "G", "end": 1471, "referenceAllele": "G", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_001366537.3:c.1258G=" ], "proteinEffect": { "hgvs": "NP_001353466.1:p.Gly420=" }, "referenceSequence": "http://reg.genome.network/refseq/RS721028" }, { "coordinates": [ { "allele": "G", "end": 1491, "endIntronDirection": "+", "endIntronOffset": 1887, "referenceAllele": "G", "start": 1491, "startIntronDirection": "+", "startIntronOffset": 1886 } ], "gene": "http://reg.genome.network/gene/GN011609", "geneNCBI_id": 6916, "geneSymbol": "TBXAS1", "hgvs": [ "NM_030984.6:c.1364+1887G=" ], "proteinEffect": { "hgvs": "NP_112246.3:n.1364+1887G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS728753" } ], "type": "nucleotide" }