{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413930030", "communityStandardTitle": [ "NM_000061.3(BTK):c.867T>G (p.Ser289Arg)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.100614308A>C?assembly=hg19", "id": "chrX:g.100614308A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.101359320A>C?assembly=hg38", "id": "chrX:g.101359320A>C" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 101359320, "referenceAllele": "A", "start": 101359319 } ], "hgvs": [ "NC_000023.11:g.101359320A>C", "CM000685.2:g.101359320A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 100614308, "referenceAllele": "A", "start": 100614307 } ], "hgvs": [ "NC_000023.10:g.100614308A>C", "CM000685.1:g.100614308A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 100500964, "referenceAllele": "A", "start": 100500963 } ], "hgvs": [ "NC_000023.9:g.100500964A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "G", "end": 31905, "referenceAllele": "T", "start": 31904 } ], "hgvs": [ "NG_009616.1:g.31905T>G", "LRG_128:g.31905T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001613" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 647, "referenceAllele": "T", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000464006.2:n.647T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS905110" }, { "coordinates": [ { "allele": "G", "end": 1027, "referenceAllele": "T", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000478995.2:n.1027T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS905263" }, { "coordinates": [ { "allele": "G", "end": 1025, "referenceAllele": "T", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000488970.2:n.1025T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS905358" }, { "coordinates": [ { "allele": "G", "end": 998, "referenceAllele": "T", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695614.1:c.867T>G" ], "proteinEffect": { "hgvs": "ENSP00000512053.1:p.Ser289Arg", "hgvsWellDefined": "ENSP00000512053.1:p.Ser289Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS907119" }, { "coordinates": [ { "allele": "G", "end": 1083, "referenceAllele": "T", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695615.1:c.867T>G" ], "proteinEffect": { "hgvs": "ENSP00000512054.1:p.Ser289Arg", "hgvsWellDefined": "ENSP00000512054.1:p.Ser289Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS907120" }, { "coordinates": [ { "allele": "G", "end": 1017, "referenceAllele": "T", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695616.1:c.*712T>G" ], "proteinEffect": { "hgvs": "ENSP00000512055.1:n.*712T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS907121" }, { "coordinates": [ { "allele": "G", "end": 1019, "referenceAllele": "T", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695617.1:c.864T>G" ], "proteinEffect": { "hgvs": "ENSP00000512056.1:p.Ser288Arg", "hgvsWellDefined": "ENSP00000512056.1:p.Ser288Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS907122" }, { "coordinates": [ { "allele": "G", "end": 1125, "referenceAllele": "T", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695618.1:c.*616T>G" ], "proteinEffect": { "hgvs": "ENSP00000512058.1:n.*616T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS907123" }, { "coordinates": [ { "allele": "G", "end": 990, "endIntronDirection": "+", "endIntronOffset": 768, "referenceAllele": "T", "start": 990, "startIntronDirection": "+", "startIntronOffset": 767 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695619.1:c.*684+768T>G" ], "proteinEffect": { "hgvs": "ENSP00000512059.1:n.*684+768T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS907124" }, { "coordinates": [ { "allele": "G", "end": 1037, "referenceAllele": "T", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695620.1:c.*712T>G" ], "proteinEffect": { "hgvs": "ENSP00000512060.1:n.*712T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS907125" }, { "coordinates": [ { "allele": "G", "end": 1019, "referenceAllele": "T", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695621.1:c.867T>G" ], "proteinEffect": { "hgvs": "ENSP00000512061.1:p.Ser289Arg", "hgvsWellDefined": "ENSP00000512061.1:p.Ser289Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS907126" }, { "coordinates": [ { "allele": "G", "end": 956, "referenceAllele": "T", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695622.1:c.804T>G" ], "proteinEffect": { "hgvs": "ENSP00000512062.1:p.Ser268Arg", "hgvsWellDefined": "ENSP00000512062.1:p.Ser268Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS907127" }, { "coordinates": [ { "allele": "G", "end": 1013, "referenceAllele": "T", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695623.1:c.861T>G" ], "proteinEffect": { "hgvs": "ENSP00000512063.1:p.Ser287Arg", "hgvsWellDefined": "ENSP00000512063.1:p.Ser287Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS907128" }, { "coordinates": [ { "allele": "G", "end": 172, "referenceAllele": "T", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695624.1:n.172T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS907129" }, { "coordinates": [ { "allele": "G", "end": 1019, "referenceAllele": "T", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695625.1:c.867T>G" ], "proteinEffect": { "hgvs": "ENSP00000512064.1:p.Ser289Arg", "hgvsWellDefined": "ENSP00000512064.1:p.Ser289Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS907130" }, { "coordinates": [ { "allele": "G", "end": 1180, "referenceAllele": "T", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000703407.1:c.867T>G" ], "proteinEffect": { "hgvs": "ENSP00000512057.1:p.Ser289Arg", "hgvsWellDefined": "ENSP00000512057.1:p.Ser289Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS911688" }, { "coordinates": [ { "allele": "G", "end": 1027, "referenceAllele": "T", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000308731.8:c.867T>G" ], "proteinEffect": { "hgvs": "ENSP00000308176.8:p.Ser289Arg", "hgvsWellDefined": "ENSP00000308176.8:p.Ser289Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS745484", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000308731.8:c.867T>G" }, "RefSeq": { "hgvs": "NM_000061.3:c.867T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308176.8:p.Ser289Arg" }, "RefSeq": { "hgvs": "NP_000052.1:p.Ser289Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 1031, "referenceAllele": "T", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000308731.7:c.867T>G" ], "proteinEffect": { "hgvs": "ENSP00000308176.7:p.Ser289Arg", "hgvsWellDefined": "ENSP00000308176.7:p.Ser289Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS256097" }, { "coordinates": [ { "allele": "G", "end": 1225, "referenceAllele": "T", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000372880.5:c.867T>G" ], "proteinEffect": { "hgvs": "ENSP00000361971.1:p.Ser289Arg", "hgvsWellDefined": "ENSP00000361971.1:p.Ser289Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS269361" }, { "coordinates": [ { "allele": "G", "end": 867, "referenceAllele": "T", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000618050.4:c.867T>G" ], "proteinEffect": { "hgvs": "ENSP00000479125.1:p.Ser289Arg", "hgvsWellDefined": "ENSP00000479125.1:p.Ser289Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS403762" }, { "coordinates": [ { "allele": "G", "end": 1216, "referenceAllele": "T", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000621635.4:c.969T>G" ], "proteinEffect": { "hgvs": "ENSP00000483570.1:p.Ser323Arg", "hgvsWellDefined": "ENSP00000483570.1:p.Ser323Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS405360" }, { "@id": "http://reg.genome.network/allele/PA2825028785", "coordinates": [ { "allele": "G", "end": 1060, "referenceAllele": "T", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_000061.2:c.867T>G", "LRG_128t1:c.867T>G" ], "proteinEffect": { "hgvs": "NP_000052.1:p.Ser289Arg", "hgvsWellDefined": "NP_000052.1:p.Ser289Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006125" }, { "@id": "http://reg.genome.network/allele/PA1139692119", "coordinates": [ { "allele": "G", "end": 1216, "referenceAllele": "T", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.1:c.969T>G" ], "proteinEffect": { "hgvs": "NP_001274273.1:p.Ser323Arg", "hgvsWellDefined": "NP_001274273.1:p.Ser323Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS023307" }, { "@id": "http://reg.genome.network/allele/PA2826742761", "coordinates": [ { "allele": "G", "end": 1225, "referenceAllele": "T", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.1:c.867T>G" ], "proteinEffect": { "hgvs": "NP_001274274.1:p.Ser289Arg", "hgvsWellDefined": "NP_001274274.1:p.Ser289Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS023308" }, { "@id": "http://reg.genome.network/allele/PA2825028785", "coordinates": [ { "allele": "G", "end": 1027, "referenceAllele": "T", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_000061.3:c.867T>G" ], "proteinEffect": { "hgvs": "NP_000052.1:p.Ser289Arg", "hgvsWellDefined": "NP_000052.1:p.Ser289Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS674681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000308731.8:c.867T>G" }, "RefSeq": { "hgvs": "NM_000061.3:c.867T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308176.8:p.Ser289Arg" }, "RefSeq": { "hgvs": "NP_000052.1:p.Ser289Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA1139692119", "coordinates": [ { "allele": "G", "end": 1216, "referenceAllele": "T", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.2:c.969T>G" ], "proteinEffect": { "hgvs": "NP_001274273.1:p.Ser323Arg", "hgvsWellDefined": "NP_001274273.1:p.Ser323Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS716364" }, { "@id": "http://reg.genome.network/allele/PA2826742761", "coordinates": [ { "allele": "G", "end": 1192, "referenceAllele": "T", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.2:c.867T>G" ], "proteinEffect": { "hgvs": "NP_001274274.1:p.Ser289Arg", "hgvsWellDefined": "NP_001274274.1:p.Ser289Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS716365" } ], "type": "nucleotide" }