{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1347665680", "communityStandardTitle": [ "NM_001370658.1(BTD):c.1406A= (p.Asn469=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104893692", "rs": 104893692 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 15645322, "referenceAllele": "A", "start": 15645321 } ], "hgvs": [ "NC_000003.12:g.15645322A=", "CM000665.2:g.15645322A=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 15686829, "referenceAllele": "A", "start": 15686828 } ], "hgvs": [ "NC_000003.11:g.15686829A=", "CM000665.1:g.15686829A=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 15661833, "referenceAllele": "A", "start": 15661832 } ], "hgvs": [ "NC_000003.10:g.15661833A=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 48575, "referenceAllele": "A", "start": 48574 } ], "hgvs": [ "NG_008019.1:g.48575A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000779" }, { "coordinates": [ { "allele": "A", "end": 48971, "referenceAllele": "A", "start": 48970 } ], "hgvs": [ "NG_008019.2:g.48971A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS706077" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "A", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000436193.6:c.1406A=" ], "proteinEffect": { "hgvs": "ENSP00000394277.2:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS914065" }, { "coordinates": [ { "allele": "A", "end": 565, "endIntronDirection": "+", "endIntronOffset": 3265, "referenceAllele": "A", "start": 565, "startIntronDirection": "+", "startIntronOffset": 3264 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000671928.2:c.399+3265A=" ], "proteinEffect": { "hgvs": "ENSP00000500069.2:n.399+3265A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS914442" }, { "coordinates": [ { "allele": "A", "end": 1181, "endIntronDirection": "+", "endIntronOffset": 391, "referenceAllele": "A", "start": 1181, "startIntronDirection": "+", "startIntronOffset": 390 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672892.2:c.1015+391A=" ], "proteinEffect": { "hgvs": "ENSP00000499944.2:n.1015+391A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS914445" }, { "coordinates": [ { "allele": "A", "end": 1857, "referenceAllele": "A", "start": 1856 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000303498.10:c.1406A=" ], "proteinEffect": { "hgvs": "ENSP00000306477.6:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS745035" }, { "coordinates": [ { "allele": "A", "end": 1729, "referenceAllele": "A", "start": 1728 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000427382.2:c.1406A=" ], "proteinEffect": { "hgvs": "ENSP00000397113.2:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS755176" }, { "coordinates": [ { "allele": "A", "end": 1704, "referenceAllele": "A", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000437172.6:c.1406A=" ], "proteinEffect": { "hgvs": "ENSP00000400995.2:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS755651" }, { "coordinates": [ { "allele": "A", "end": 1823, "referenceAllele": "A", "start": 1822 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000449107.7:c.1406A=" ], "proteinEffect": { "hgvs": "ENSP00000388212.2:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS756215" }, { "coordinates": [ { "allele": "A", "end": 1572, "referenceAllele": "A", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000643237.3:c.1406A=" ], "proteinEffect": { "hgvs": "ENSP00000495254.2:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS767167", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643237.3:c.1406A=" }, "RefSeq": { "hgvs": "NM_001370658.1:c.1406A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495254.2:p.Asn469=" }, "RefSeq": { "hgvs": "NP_001357587.1:p.Asn469=" } } } }, { "coordinates": [ { "allele": "A", "end": 1717, "referenceAllele": "A", "start": 1716 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000646371.1:c.1406A=" ], "proteinEffect": { "hgvs": "ENSP00000495866.1:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS768834" }, { "coordinates": [ { "allele": "A", "end": 165, "endIntronDirection": "+", "endIntronOffset": 3265, "referenceAllele": "A", "start": 165, "startIntronDirection": "+", "startIntronOffset": 3264 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000671928.1:c.165+3265A=" ], "proteinEffect": { "hgvs": "ENSP00000500069.1:n.165+3265A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773213" }, { "coordinates": [ { "allele": "A", "end": 1572, "referenceAllele": "A", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672065.1:c.1466A=" ], "proteinEffect": { "hgvs": "ENSP00000500403.1:p.Asn489=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773257" }, { "coordinates": [ { "allele": "A", "end": 1760, "referenceAllele": "A", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672112.1:c.1472A=" ], "proteinEffect": { "hgvs": "ENSP00000500193.1:p.Asn491=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773275" }, { "coordinates": [ { "allele": "A", "end": 565, "endIntronDirection": "+", "endIntronOffset": 3265, "referenceAllele": "A", "start": 565, "startIntronDirection": "+", "startIntronOffset": 3264 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672141.1:c.399+3265A=" ], "proteinEffect": { "hgvs": "ENSP00000500210.1:n.399+3265A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773287" }, { "coordinates": [ { "allele": "A", "end": 1167, "endIntronDirection": "+", "endIntronOffset": 391, "referenceAllele": "A", "start": 1167, "startIntronDirection": "+", "startIntronOffset": 390 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672427.1:c.1015+391A=" ], "proteinEffect": { "hgvs": "ENSP00000500131.1:n.1015+391A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773382" }, { "coordinates": [ { "allele": "A", "end": 529, "endIntronDirection": "+", "endIntronOffset": 3265, "referenceAllele": "A", "start": 529, "startIntronDirection": "+", "startIntronOffset": 3264 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672760.1:c.399+3265A=" ], "proteinEffect": { "hgvs": "ENSP00000500530.1:n.399+3265A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773481" }, { "coordinates": [ { "allele": "A", "end": 793, "endIntronDirection": "+", "endIntronOffset": 391, "referenceAllele": "A", "start": 793, "startIntronDirection": "+", "startIntronOffset": 390 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672892.1:c.793+391A=" ], "proteinEffect": { "hgvs": "ENSP00000499944.1:n.793+391A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773531" }, { "coordinates": [ { "allele": "A", "end": 532, "endIntronDirection": "+", "endIntronOffset": 3265, "referenceAllele": "A", "start": 532, "startIntronDirection": "+", "startIntronOffset": 3264 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000673467.1:c.399+3265A=" ], "proteinEffect": { "hgvs": "ENSP00000500288.1:n.399+3265A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773694" }, { "coordinates": [ { "allele": "A", "end": 460, "endIntronDirection": "+", "endIntronOffset": 3265, "referenceAllele": "A", "start": 460, "startIntronDirection": "+", "startIntronOffset": 3264 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000673620.1:c.399+3265A=" ], "proteinEffect": { "hgvs": "ENSP00000500325.1:n.399+3265A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773737" }, { "coordinates": [ { "allele": "A", "end": 1575, "referenceAllele": "A", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000303498.9:c.1466A=" ], "proteinEffect": { "hgvs": "ENSP00000306477.5:p.Asn489=" }, "referenceSequence": "http://reg.genome.network/refseq/RS255323" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "A", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000383778.5:c.1406A=" ], "proteinEffect": { "hgvs": "ENSP00000373288.4:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS274028" }, { "coordinates": [ { "allele": "A", "end": 1704, "referenceAllele": "A", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000437172.5:c.1472A=" ], "proteinEffect": { "hgvs": "ENSP00000400995.1:p.Asn491=" }, "referenceSequence": "http://reg.genome.network/refseq/RS294336" }, { "coordinates": [ { "allele": "A", "end": 1560, "referenceAllele": "A", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000449107.5:c.1472A=" ], "proteinEffect": { "hgvs": "ENSP00000388212.1:p.Asn491=" }, "referenceSequence": "http://reg.genome.network/refseq/RS300046" }, { "coordinates": [ { "allele": "A", "end": 1572, "referenceAllele": "A", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_000060.3:c.1466A=" ], "proteinEffect": { "hgvs": "NP_000051.1:p.Asn489=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006124" }, { "coordinates": [ { "allele": "A", "end": 1841, "referenceAllele": "A", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281723.1:c.1472A=" ], "proteinEffect": { "hgvs": "NP_001268652.1:p.Asn491=" }, "referenceSequence": "http://reg.genome.network/refseq/RS021687" }, { "coordinates": [ { "allele": "A", "end": 1760, "referenceAllele": "A", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281724.1:c.1472A=" ], "proteinEffect": { "hgvs": "NP_001268653.1:p.Asn491=" }, "referenceSequence": "http://reg.genome.network/refseq/RS021688" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "A", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281725.1:c.1406A=" ], "proteinEffect": { "hgvs": "NP_001268654.1:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS021689" }, { "coordinates": [ { "allele": "A", "end": 1792, "referenceAllele": "A", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_006713314.2:c.1406A=" ], "proteinEffect": { "hgvs": "XP_006713377.1:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS070104" }, { "coordinates": [ { "allele": "A", "end": 1689, "referenceAllele": "A", "start": 1688 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_011534041.1:c.1406A=" ], "proteinEffect": { "hgvs": "XP_011532343.1:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS101059" }, { "coordinates": [ { "allele": "A", "end": 1572, "referenceAllele": "A", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_000060.4:c.1466A=" ], "proteinEffect": { "hgvs": "NP_000051.1:p.Asn489=" }, "referenceSequence": "http://reg.genome.network/refseq/RS510748" }, { "coordinates": [ { "allele": "A", "end": 1841, "referenceAllele": "A", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281723.2:c.1472A=" ], "proteinEffect": { "hgvs": "NP_001268652.1:p.Asn491=" }, "referenceSequence": "http://reg.genome.network/refseq/RS512079" }, { "coordinates": [ { "allele": "A", "end": 1760, "referenceAllele": "A", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281724.2:c.1472A=" ], "proteinEffect": { "hgvs": "NP_001268653.1:p.Asn491=" }, "referenceSequence": "http://reg.genome.network/refseq/RS512080" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "A", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281725.2:c.1406A=" ], "proteinEffect": { "hgvs": "NP_001268654.1:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS512081" }, { "coordinates": [ { "allele": "A", "end": 1848, "referenceAllele": "A", "start": 1847 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001323582.1:c.1406A=" ], "proteinEffect": { "hgvs": "NP_001310511.1:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515472" }, { "coordinates": [ { "allele": "A", "end": 1689, "referenceAllele": "A", "start": 1688 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_011534041.2:c.1406A=" ], "proteinEffect": { "hgvs": "XP_011532343.1:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS551484" }, { "coordinates": [ { "allele": "A", "end": 1965, "referenceAllele": "A", "start": 1964 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_017007088.1:c.1406A=" ], "proteinEffect": { "hgvs": "XP_016862577.1:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS561945" }, { "coordinates": [ { "allele": "A", "end": 1799, "referenceAllele": "A", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_024453724.1:c.1406A=" ], "proteinEffect": { "hgvs": "XP_024309492.1:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS587099" }, { "@id": "http://reg.genome.network/allele/PA3068384732", "coordinates": [ { "allele": "A", "end": 1841, "referenceAllele": "A", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281723.3:c.1406A=" ], "proteinEffect": { "hgvs": "NP_001268652.2:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS681660" }, { "coordinates": [ { "allele": "A", "end": 1760, "referenceAllele": "A", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281724.3:c.1406A=" ], "proteinEffect": { "hgvs": "NP_001268653.2:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS681661" }, { "coordinates": [ { "allele": "A", "end": 1572, "referenceAllele": "A", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001370658.1:c.1406A=" ], "proteinEffect": { "hgvs": "NP_001357587.1:p.Asn469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS692577", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643237.3:c.1406A=" }, "RefSeq": { "hgvs": "NM_001370658.1:c.1406A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495254.2:p.Asn469=" }, "RefSeq": { "hgvs": "NP_001357587.1:p.Asn469=" } } } }, { "coordinates": [ { "allele": "A", "end": 1181, "endIntronDirection": "+", "endIntronOffset": 391, "referenceAllele": "A", "start": 1181, "startIntronDirection": "+", "startIntronOffset": 390 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001370752.1:c.1015+391A=" ], "proteinEffect": { "hgvs": "NP_001357681.1:n.1015+391A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS692598" }, { "coordinates": [ { "allele": "A", "end": 565, "endIntronDirection": "+", "endIntronOffset": 3265, "referenceAllele": "A", "start": 565, "startIntronDirection": "+", "startIntronOffset": 3264 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001370753.1:c.399+3265A=" ], "proteinEffect": { "hgvs": "NP_001357682.1:n.399+3265A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS692599" }, { "coordinates": [ { "allele": "A", "end": 3830, "referenceAllele": "A", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281726.2:c.*3184A=" ], "proteinEffect": { "hgvs": "NP_001268655.2:n.*3184A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS715719" } ], "type": "nucleotide" }