{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA253372", "communityStandardTitle": [ "NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20016[alleleid]", "alleleId": 20016, "preferredName": "NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4977", "RCV": [ "RCV000005265", "RCV003415656" ], "variationId": 4977 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-44053568-G-A", "id": "2-44053568-G-A", "variant": "2:44053568 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.44053568G>A?assembly=hg19", "id": "chr2:g.44053568G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.43826429G>A?assembly=hg38", "id": "chr2:g.43826429G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/119479066", "rs": 119479066 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-44053568-G-A?dataset=gnomad_r2_1", "id": "2-44053568-G-A", "variant": "2:44053568 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-43826429-G-A?dataset=gnomad_r3", "id": "2-43826429-G-A", "variant": "2:43826429 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-43826429-G-A?dataset=gnomad_r4", "id": "2-43826429-G-A", "variant": "2:43826429 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 43826429, "referenceAllele": "G", "start": 43826428 } ], "hgvs": [ "NC_000002.12:g.43826429G>A", "CM000664.2:g.43826429G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 44053568, "referenceAllele": "G", "start": 44053567 } ], "hgvs": [ "NC_000002.11:g.44053568G>A", "CM000664.1:g.44053568G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 43907072, "referenceAllele": "G", "start": 43907071 } ], "hgvs": [ "NC_000002.10:g.43907072G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 17391, "referenceAllele": "C", "start": 17390 } ], "hgvs": [ "NG_008883.1:g.17391C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001278" }, { "coordinates": [ { "allele": "A", "end": 57391, "referenceAllele": "G", "start": 57390 } ], "hgvs": [ "NG_053008.1:g.57391G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS617315" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 887, "referenceAllele": "C", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "ENST00000405322.8:c.727C>T" ], "proteinEffect": { "hgvs": "ENSP00000384513.2:p.Arg243Ter", "hgvsWellDefined": "ENSP00000384513.2:p.Arg243_Arg651delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754122", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000405322.8:c.727C>T" }, "RefSeq": { "hgvs": "NM_022436.3:c.727C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384513.2:p.Arg243Ter" }, "RefSeq": { "hgvs": "NP_071881.1:p.Arg243Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1288, "endIntronDirection": "+", "endIntronOffset": 1554, "referenceAllele": "C", "start": 1288, "startIntronDirection": "+", "startIntronOffset": 1553 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "ENST00000644754.1:n.1288+1554C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767979" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "ENST00000260645.5:c.727C>T" ], "proteinEffect": { "hgvs": "ENSP00000260645.1:p.Arg243Ter", "hgvsWellDefined": "ENSP00000260645.1:p.Arg243_Arg651delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250618" }, { "coordinates": [ { "allele": "T", "end": 1288, "endIntronDirection": "+", "endIntronOffset": 1554, "referenceAllele": "C", "start": 1288, "startIntronDirection": "+", "startIntronOffset": 1553 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "ENST00000405322.5:c.391+1554C>T" ], "proteinEffect": { "hgvs": "ENSP00000384513.1:n.391+1554C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS280311" }, { "coordinates": [ { "allele": "T", "end": 1401, "endIntronDirection": "+", "endIntronOffset": 1554, "referenceAllele": "C", "start": 1401, "startIntronDirection": "+", "startIntronOffset": 1553 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "ENST00000409962.1:c.391+1554C>T" ], "proteinEffect": { "hgvs": "ENSP00000386501.1:n.391+1554C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS282000" }, { "coordinates": [ { "allele": "T", "end": 1639, "endIntronDirection": "+", "endIntronOffset": 1554, "referenceAllele": "C", "start": 1639, "startIntronDirection": "+", "startIntronOffset": 1553 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "ENST00000486512.5:c.*387+1554C>T" ], "proteinEffect": { "hgvs": "ENSP00000430935.1:n.*387+1554C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS325308" }, { "@id": "http://reg.genome.network/allele/PA253373", "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "NM_022436.2:c.727C>T" ], "proteinEffect": { "hgvs": "NP_071881.1:p.Arg243Ter", "hgvsWellDefined": "NP_071881.1:p.Arg243_Arg651delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037306" }, { "coordinates": [ { "allele": "A", "end": 1223, "endIntronDirection": "-", "endIntronOffset": 956, "referenceAllele": "G", "start": 1223, "startIntronDirection": "-", "startIntronOffset": 957 } ], "gene": "http://reg.genome.network/gene/GN024595", "geneNCBI_id": 51626, "geneSymbol": "DYNC2LI1", "hgvs": [ "XM_005264364.3:c.*16-957G>A" ], "proteinEffect": { "hgvs": "XP_005264421.1:n.*16-957G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064184" }, { "coordinates": [ { "allele": "A", "end": 1220, "endIntronDirection": "-", "endIntronOffset": 956, "referenceAllele": "G", "start": 1220, "startIntronDirection": "-", "startIntronOffset": 957 } ], "gene": "http://reg.genome.network/gene/GN024595", "geneNCBI_id": 51626, "geneSymbol": "DYNC2LI1", "hgvs": [ "XM_005264365.3:c.*16-957G>A" ], "proteinEffect": { "hgvs": "XP_005264422.1:n.*16-957G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064185" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_005264480.2:c.727C>T" ], "proteinEffect": { "hgvs": "XP_005264537.1:p.Arg243Ter", "hgvsWellDefined": "XP_005264537.1:p.Arg243_Asn558delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgGlnLeuLysCysPheCysAspAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064250" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "C", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_006712073.2:c.727C>T" ], "proteinEffect": { "hgvs": "XP_006712136.1:p.Arg243Ter", "hgvsWellDefined": "XP_006712136.1:p.Arg243_Tyr593delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysAlaProGluGlyGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069455" }, { "coordinates": [ { "allele": "T", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_006712074.2:c.727C>T" ], "proteinEffect": { "hgvs": "XP_006712137.1:p.Arg243Ter", "hgvsWellDefined": "XP_006712137.1:p.Arg243_Ser339delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrArgIleAsnLeuAlaGlySerMetAsnLeuProGluMetThrIleArgMetArgSerGlyIleSerLeuLysGlnThrGlyAlaLeuLeuLeuLeuTyrGlnSerIleIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069456" }, { "coordinates": [ { "allele": "T", "end": 863, "referenceAllele": "C", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_011533024.1:c.727C>T" ], "proteinEffect": { "hgvs": "XP_011531326.1:p.Arg243Ter", "hgvsWellDefined": "XP_011531326.1:p.Arg243_Arg606delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetValProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100050" }, { "coordinates": [ { "allele": "T", "end": 1413, "referenceAllele": "C", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_011533025.1:c.484C>T" ], "proteinEffect": { "hgvs": "XP_011531327.1:p.Arg162Ter", "hgvsWellDefined": "XP_011531327.1:p.Arg162_Arg570delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100051" }, { "coordinates": [ { "allele": "T", "end": 771, "endIntronDirection": "+", "endIntronOffset": 1554, "referenceAllele": "C", "start": 771, "startIntronDirection": "+", "startIntronOffset": 1553 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_011533026.1:c.634+1554C>T" ], "proteinEffect": { "hgvs": "XP_011531328.1:n.634+1554C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS100052" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "C", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_011533027.1:c.214C>T" ], "proteinEffect": { "hgvs": "XP_011531329.1:p.Arg72Ter", "hgvsWellDefined": "XP_011531329.1:p.Arg72_Arg480delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100053" }, { "coordinates": [ { "allele": "T", "end": 89, "endIntronDirection": "-", "endIntronOffset": 1410, "referenceAllele": "C", "start": 89, "startIntronDirection": "-", "startIntronOffset": 1411 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_011533028.1:c.-63-1411C>T" ], "proteinEffect": { "hgvs": "XP_011531330.1:n.-63-1411C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS100054" }, { "coordinates": [ { "allele": "A", "end": 1237, "endIntronDirection": "-", "endIntronOffset": 956, "referenceAllele": "G", "start": 1237, "startIntronDirection": "-", "startIntronOffset": 957 } ], "gene": "http://reg.genome.network/gene/GN024595", "geneNCBI_id": 51626, "geneSymbol": "DYNC2LI1", "hgvs": [ "NM_001348912.1:c.*16-957G>A" ], "proteinEffect": { "hgvs": "NP_001335841.1:n.*16-957G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS518358" }, { "coordinates": [ { "allele": "A", "end": 1240, "endIntronDirection": "-", "endIntronOffset": 956, "referenceAllele": "G", "start": 1240, "startIntronDirection": "-", "startIntronOffset": 957 } ], "gene": "http://reg.genome.network/gene/GN024595", "geneNCBI_id": 51626, "geneSymbol": "DYNC2LI1", "hgvs": [ "NM_001348913.1:c.*16-957G>A" ], "proteinEffect": { "hgvs": "NP_001335842.1:n.*16-957G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS518359" }, { "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_005264480.4:c.727C>T" ], "proteinEffect": { "hgvs": "XP_005264537.1:p.Arg243Ter", "hgvsWellDefined": "XP_005264537.1:p.Arg243_Asn558delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgGlnLeuLysCysPheCysAspAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535887" }, { "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_006712073.3:c.727C>T" ], "proteinEffect": { "hgvs": "XP_006712136.1:p.Arg243Ter", "hgvsWellDefined": "XP_006712136.1:p.Arg243_Tyr593delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysAlaProGluGlyGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538166" }, { "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_006712074.3:c.727C>T" ], "proteinEffect": { "hgvs": "XP_006712137.1:p.Arg243Ter", "hgvsWellDefined": "XP_006712137.1:p.Arg243_Ser339delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrArgIleAsnLeuAlaGlySerMetAsnLeuProGluMetThrIleArgMetArgSerGlyIleSerLeuLysGlnThrGlyAlaLeuLeuLeuLeuTyrGlnSerIleIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538167" }, { "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_011533024.2:c.727C>T" ], "proteinEffect": { "hgvs": "XP_011531326.1:p.Arg243Ter", "hgvsWellDefined": "XP_011531326.1:p.Arg243_Arg606delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetValProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551078" }, { "coordinates": [ { "allele": "T", "end": 1388, "referenceAllele": "C", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_011533025.3:c.484C>T" ], "proteinEffect": { "hgvs": "XP_011531327.1:p.Arg162Ter", "hgvsWellDefined": "XP_011531327.1:p.Arg162_Arg570delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551079" }, { "coordinates": [ { "allele": "T", "end": 795, "endIntronDirection": "+", "endIntronOffset": 1554, "referenceAllele": "C", "start": 795, "startIntronDirection": "+", "startIntronOffset": 1553 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_011533026.2:c.634+1554C>T" ], "proteinEffect": { "hgvs": "XP_011531328.1:n.634+1554C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS551080" }, { "coordinates": [ { "allele": "T", "end": 1233, "referenceAllele": "C", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_011533027.3:c.214C>T" ], "proteinEffect": { "hgvs": "XP_011531329.1:p.Arg72Ter", "hgvsWellDefined": "XP_011531329.1:p.Arg72_Arg480delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551081" }, { "coordinates": [ { "allele": "T", "end": 89, "endIntronDirection": "-", "endIntronOffset": 1410, "referenceAllele": "C", "start": 89, "startIntronDirection": "-", "startIntronOffset": 1411 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_011533028.2:c.-63-1411C>T" ], "proteinEffect": { "hgvs": "XP_011531330.1:n.-63-1411C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS551082" }, { "@id": "http://reg.genome.network/allele/PA253373", "coordinates": [ { "allele": "T", "end": 887, "referenceAllele": "C", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "NM_022436.3:c.727C>T" ], "proteinEffect": { "hgvs": "NP_071881.1:p.Arg243Ter", "hgvsWellDefined": "NP_071881.1:p.Arg243_Arg651delinsIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698537", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000405322.8:c.727C>T" }, "RefSeq": { "hgvs": "NM_022436.3:c.727C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384513.2:p.Arg243Ter" }, "RefSeq": { "hgvs": "NP_071881.1:p.Arg243Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1237, "endIntronDirection": "-", "endIntronOffset": 956, "referenceAllele": "G", "start": 1237, "startIntronDirection": "-", "startIntronOffset": 957 } ], "gene": "http://reg.genome.network/gene/GN024595", "geneNCBI_id": 51626, "geneSymbol": "DYNC2LI1", "hgvs": [ "NM_001348912.2:c.*16-957G>A" ], "proteinEffect": { "hgvs": "NP_001335841.1:n.*16-957G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719198" }, { "coordinates": [ { "allele": "A", "end": 1240, "endIntronDirection": "-", "endIntronOffset": 956, "referenceAllele": "G", "start": 1240, "startIntronDirection": "-", "startIntronOffset": 957 } ], "gene": "http://reg.genome.network/gene/GN024595", "geneNCBI_id": 51626, "geneSymbol": "DYNC2LI1", "hgvs": [ "NM_001348913.2:c.*16-957G>A" ], "proteinEffect": { "hgvs": "NP_001335842.1:n.*16-957G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719199" } ], "type": "nucleotide" }