{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA471269165", "communityStandardTitle": [ "NM_021830.5(TWNK):c.900G>A (p.Gln300=)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.102748867G>A?assembly=hg19", "id": "chr10:g.102748867G>A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 100989110, "referenceAllele": "G", "start": 100989109 } ], "hgvs": [ "NC_000010.11:g.100989110G>A", "CM000672.2:g.100989110G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 102748867, "referenceAllele": "G", "start": 102748866 } ], "hgvs": [ "NC_000010.10:g.102748867G>A", "CM000672.1:g.102748867G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 102738857, "referenceAllele": "G", "start": 102738856 } ], "hgvs": [ "NC_000010.9:g.102738857G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 3406, "referenceAllele": "C", "start": 3405 } ], "hgvs": [ "NG_011646.1:g.3406C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001880" }, { "coordinates": [ { "allele": "A", "end": 6575, "referenceAllele": "G", "start": 6574 } ], "hgvs": [ "NG_012624.1:g.6575G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002479" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1568, "referenceAllele": "G", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "ENST00000311916.8:c.900G>A" ], "proteinEffect": { "hgvs": "ENSP00000309595.2:p.Gln300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS745757", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311916.8:c.900G>A" }, "RefSeq": { "hgvs": "NM_021830.5:c.900G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000309595.2:p.Gln300=" }, "RefSeq": { "hgvs": "NP_068602.2:p.Gln300=" } } } }, { "coordinates": [ { "allele": "A", "end": 1575, "referenceAllele": "G", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "ENST00000370228.2:c.900G>A" ], "proteinEffect": { "hgvs": "ENSP00000359248.1:p.Gln300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS750568" }, { "coordinates": [ { "allele": "A", "end": 1556, "referenceAllele": "G", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "ENST00000643860.1:c.900G>A" ], "proteinEffect": { "hgvs": "ENSP00000494389.1:p.Gln300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS767512" }, { "coordinates": [ { "allele": "A", "end": 58, "endIntronDirection": "-", "endIntronOffset": 533, "referenceAllele": "G", "start": 58, "startIntronDirection": "-", "startIntronOffset": 534 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "ENST00000646226.1:n.59-534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768763" }, { "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "G", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "ENST00000311916.6:c.900G>A" ], "proteinEffect": { "hgvs": "ENSP00000309595.2:p.Gln300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS256603" }, { "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "G", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "ENST00000370228.1:c.900G>A" ], "proteinEffect": { "hgvs": "ENSP00000359248.1:p.Gln300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS267947" }, { "coordinates": [ { "allele": "A", "end": 86, "endIntronDirection": "-", "endIntronOffset": 533, "referenceAllele": "G", "start": 86, "startIntronDirection": "-", "startIntronOffset": 534 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "ENST00000459764.1:n.87-534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS304667" }, { "coordinates": [ { "allele": "A", "end": 64, "endIntronDirection": "-", "endIntronOffset": 533, "referenceAllele": "G", "start": 64, "startIntronDirection": "-", "startIntronOffset": 534 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "ENST00000473656.5:n.65-534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS315351" }, { "coordinates": [ { "allele": "A", "end": 191, "endIntronDirection": "-", "endIntronOffset": 595, "referenceAllele": "G", "start": 191, "startIntronDirection": "-", "startIntronOffset": 596 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "ENST00000476766.5:n.192-596G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317739" }, { "coordinates": [ { "allele": "A", "end": 1575, "referenceAllele": "G", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "NM_001163812.1:c.900G>A" ], "proteinEffect": { "hgvs": "NP_001157284.1:p.Gln300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS014425" }, { "coordinates": [ { "allele": "A", "end": 78, "endIntronDirection": "-", "endIntronOffset": 533, "referenceAllele": "G", "start": 78, "startIntronDirection": "-", "startIntronOffset": 534 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "NM_001163813.1:c.-119-534G>A" ], "proteinEffect": { "hgvs": "NP_001157285.1:n.-119-534G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS014426" }, { "coordinates": [ { "allele": "A", "end": 78, "endIntronDirection": "-", "endIntronOffset": 533, "referenceAllele": "G", "start": 78, "startIntronDirection": "-", "startIntronOffset": 534 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "NM_001163814.1:c.-119-534G>A" ], "proteinEffect": { "hgvs": "NP_001157286.1:n.-119-534G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS014427" }, { "@id": "http://reg.genome.network/allele/PA3077572983", "coordinates": [ { "allele": "A", "end": 1575, "referenceAllele": "G", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "NM_021830.4:c.900G>A" ], "proteinEffect": { "hgvs": "NP_068602.2:p.Gln300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS037054" }, { "coordinates": [ { "allele": "A", "end": 47, "endIntronDirection": "-", "endIntronOffset": 595, "referenceAllele": "G", "start": 47, "startIntronDirection": "-", "startIntronOffset": 596 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "XM_011539975.1:c.-57-596G>A" ], "proteinEffect": { "hgvs": "XP_011538277.1:n.-57-596G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS106925" }, { "coordinates": [ { "allele": "A", "end": 1733, "referenceAllele": "G", "start": 1732 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "XR_945788.1:n.1733G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS139421" }, { "coordinates": [ { "allele": "A", "end": 87, "endIntronDirection": "-", "endIntronOffset": 595, "referenceAllele": "G", "start": 87, "startIntronDirection": "-", "startIntronOffset": 596 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "XM_011539975.2:c.-57-596G>A" ], "proteinEffect": { "hgvs": "XP_011538277.1:n.-57-596G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS553870" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "XM_017016437.1:c.-401G>A" ], "proteinEffect": { "hgvs": "XP_016871926.1:n.-401G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS568887" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "XR_001747142.1:n.1074G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595343" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "XR_001747144.1:n.1074G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595344" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "XR_002956991.1:n.1074G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603128" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "XR_945788.2:n.1074G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614155" }, { "@id": "http://reg.genome.network/allele/PA3077572983", "coordinates": [ { "allele": "A", "end": 1568, "referenceAllele": "G", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "NM_021830.5:c.900G>A" ], "proteinEffect": { "hgvs": "NP_068602.2:p.Gln300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS670308", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311916.8:c.900G>A" }, "RefSeq": { "hgvs": "NM_021830.5:c.900G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000309595.2:p.Gln300=" }, "RefSeq": { "hgvs": "NP_068602.2:p.Gln300=" } } } }, { "coordinates": [ { "allele": "A", "end": 1568, "referenceAllele": "G", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "NM_001163812.2:c.900G>A" ], "proteinEffect": { "hgvs": "NP_001157284.1:p.Gln300=" }, "referenceSequence": "http://reg.genome.network/refseq/RS678271" }, { "coordinates": [ { "allele": "A", "end": 71, "endIntronDirection": "-", "endIntronOffset": 533, "referenceAllele": "G", "start": 71, "startIntronDirection": "-", "startIntronOffset": 534 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "NM_001163813.2:c.-119-534G>A" ], "proteinEffect": { "hgvs": "NP_001157285.1:n.-119-534G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS678272" }, { "coordinates": [ { "allele": "A", "end": 71, "endIntronDirection": "-", "endIntronOffset": 533, "referenceAllele": "G", "start": 71, "startIntronDirection": "-", "startIntronOffset": 534 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "NM_001163814.2:c.-119-534G>A" ], "proteinEffect": { "hgvs": "NP_001157286.1:n.-119-534G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS678273" }, { "coordinates": [ { "allele": "A", "end": 71, "endIntronDirection": "-", "endIntronOffset": 595, "referenceAllele": "G", "start": 71, "startIntronDirection": "-", "startIntronOffset": 596 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "NM_001368275.1:c.-57-596G>A" ], "proteinEffect": { "hgvs": "NP_001355204.1:n.-57-596G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS691413" }, { "coordinates": [ { "allele": "A", "end": 1568, "referenceAllele": "G", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "NR_160738.1:n.1568G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705175" }, { "coordinates": [ { "allele": "A", "end": 71, "endIntronDirection": "-", "endIntronOffset": 533, "referenceAllele": "G", "start": 71, "startIntronDirection": "-", "startIntronOffset": 534 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "NR_160739.1:n.72-534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705176" }, { "coordinates": [ { "allele": "A", "end": 1568, "referenceAllele": "G", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "NR_160740.1:n.1568G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705177" }, { "coordinates": [ { "allele": "A", "end": 1568, "referenceAllele": "G", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "NR_160741.1:n.1568G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705178" }, { "coordinates": [ { "allele": "A", "end": 1568, "referenceAllele": "G", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN001160", "geneNCBI_id": 56652, "geneSymbol": "TWNK", "hgvs": [ "NR_160742.1:n.1568G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705179" } ], "type": "nucleotide" }