{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1557343490", "communityStandardTitle": [ "NM_003664.5(AP3B1):c.904A= (p.Arg302=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908905", "rs": 121908905 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 78181545, "referenceAllele": "T", "start": 78181544 } ], "hgvs": [ "NC_000005.10:g.78181545T=", "CM000667.2:g.78181545T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 77477369, "referenceAllele": "T", "start": 77477368 } ], "hgvs": [ "NC_000005.9:g.77477369T=", "CM000667.1:g.77477369T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 77513125, "referenceAllele": "T", "start": 77513124 } ], "hgvs": [ "NC_000005.8:g.77513125T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 118160, "referenceAllele": "A", "start": 118159 } ], "hgvs": [ "NG_007268.1:g.118160A=", "LRG_170:g.118160A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000516" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1042, "referenceAllele": "A", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000517561.2:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000511839.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS905573" }, { "coordinates": [ { "allele": "A", "end": 1062, "referenceAllele": "A", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000517940.2:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000511881.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS905578" }, { "coordinates": [ { "allele": "A", "end": 1071, "referenceAllele": "A", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000519295.6:c.757A=" ], "proteinEffect": { "hgvs": "ENSP00000430597.1:p.Arg253=" }, "referenceSequence": "http://reg.genome.network/refseq/RS905590" }, { "coordinates": [ { "allele": "A", "end": 904, "referenceAllele": "A", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000519888.6:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000511880.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS905599" }, { "coordinates": [ { "allele": "A", "end": 904, "referenceAllele": "A", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695447.1:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000511917.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS906968" }, { "coordinates": [ { "allele": "A", "end": 1204, "referenceAllele": "A", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695449.1:c.*949A=" ], "proteinEffect": { "hgvs": "ENSP00000511918.1:n.*949A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS906970" }, { "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "A", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695450.1:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000511919.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS906971" }, { "coordinates": [ { "allele": "A", "end": 1210, "referenceAllele": "A", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695451.1:c.*584A=" ], "proteinEffect": { "hgvs": "ENSP00000511920.1:n.*584A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS906972" }, { "coordinates": [ { "allele": "A", "end": 1025, "referenceAllele": "A", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695452.1:n.1025A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS906973" }, { "coordinates": [ { "allele": "A", "end": 1051, "referenceAllele": "A", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695453.1:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000511921.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS906974" }, { "coordinates": [ { "allele": "A", "end": 1087, "referenceAllele": "A", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695454.1:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000511922.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS906975" }, { "coordinates": [ { "allele": "A", "end": 1032, "referenceAllele": "A", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695455.1:c.757A=" ], "proteinEffect": { "hgvs": "ENSP00000511923.1:p.Arg253=" }, "referenceSequence": "http://reg.genome.network/refseq/RS906976" }, { "coordinates": [ { "allele": "A", "end": 1062, "referenceAllele": "A", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695488.1:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000511959.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907007" }, { "coordinates": [ { "allele": "A", "end": 1062, "referenceAllele": "A", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695505.1:n.1062A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS907021" }, { "coordinates": [ { "allele": "A", "end": 1062, "referenceAllele": "A", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695507.1:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000511970.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907023" }, { "coordinates": [ { "allele": "A", "end": 1062, "referenceAllele": "A", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695510.1:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000511973.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907026" }, { "coordinates": [ { "allele": "A", "end": 1062, "referenceAllele": "A", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695511.1:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000511974.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907027" }, { "coordinates": [ { "allele": "A", "end": 1062, "referenceAllele": "A", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695512.1:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000511975.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907028" }, { "coordinates": [ { "allele": "A", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695513.1:c.769A=" ], "proteinEffect": { "hgvs": "ENSP00000511976.1:p.Arg257=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907029" }, { "coordinates": [ { "allele": "A", "end": 904, "referenceAllele": "A", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695514.1:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000511977.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907030" }, { "coordinates": [ { "allele": "A", "end": 904, "referenceAllele": "A", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695515.1:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000511978.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907031" }, { "coordinates": [ { "allele": "A", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695540.1:n.1060A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS907055" }, { "coordinates": [ { "allele": "A", "end": 1023, "referenceAllele": "A", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000255194.11:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000255194.7:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS741711", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255194.11:c.904A=" }, "RefSeq": { "hgvs": "NM_003664.5:c.904A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255194.7:p.Arg302=" }, "RefSeq": { "hgvs": "NP_003655.3:p.Arg302=" } } } }, { "coordinates": [ { "allele": "A", "end": 1080, "referenceAllele": "A", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000255194.10:c.904A=" ], "proteinEffect": { "hgvs": "ENSP00000255194.6:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS250081" }, { "coordinates": [ { "allele": "A", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000519295.5:c.757A=" ], "proteinEffect": { "hgvs": "ENSP00000430597.1:p.Arg253=" }, "referenceSequence": "http://reg.genome.network/refseq/RS346563" }, { "coordinates": [ { "allele": "A", "end": 1092, "referenceAllele": "A", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "NM_001271769.1:c.757A=" ], "proteinEffect": { "hgvs": "NP_001258698.1:p.Arg253=" }, "referenceSequence": "http://reg.genome.network/refseq/RS020629" }, { "@id": "http://reg.genome.network/allele/PA3070948447", "coordinates": [ { "allele": "A", "end": 1080, "referenceAllele": "A", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "NM_003664.4:c.904A=", "LRG_170t1:c.904A=" ], "proteinEffect": { "hgvs": "NP_003655.3:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS028893" }, { "coordinates": [ { "allele": "A", "end": 1052, "referenceAllele": "A", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "XM_005248618.2:c.904A=" ], "proteinEffect": { "hgvs": "XP_005248675.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS058513" }, { "coordinates": [ { "allele": "A", "end": 1052, "referenceAllele": "A", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "XM_005248619.3:c.904A=" ], "proteinEffect": { "hgvs": "XP_005248676.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS058514" }, { "coordinates": [ { "allele": "A", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "XM_005248618.4:c.904A=" ], "proteinEffect": { "hgvs": "XP_005248675.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS533113" }, { "coordinates": [ { "allele": "A", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "XM_005248619.5:c.904A=" ], "proteinEffect": { "hgvs": "XP_005248676.1:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS533114" }, { "coordinates": [ { "allele": "A", "end": 832, "referenceAllele": "A", "start": 831 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "XM_017010001.1:c.757A=" ], "proteinEffect": { "hgvs": "XP_016865490.1:p.Arg253=" }, "referenceSequence": "http://reg.genome.network/refseq/RS564165" }, { "coordinates": [ { "allele": "A", "end": 1035, "referenceAllele": "A", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "NM_001271769.2:c.757A=" ], "proteinEffect": { "hgvs": "NP_001258698.1:p.Arg253=" }, "referenceSequence": "http://reg.genome.network/refseq/RS681191" }, { "@id": "http://reg.genome.network/allele/PA3070948447", "coordinates": [ { "allele": "A", "end": 1023, "referenceAllele": "A", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "NM_003664.5:c.904A=" ], "proteinEffect": { "hgvs": "NP_003655.3:p.Arg302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS695922", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255194.11:c.904A=" }, "RefSeq": { "hgvs": "NM_003664.5:c.904A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255194.7:p.Arg302=" }, "RefSeq": { "hgvs": "NP_003655.3:p.Arg302=" } } } } ], "type": "nucleotide" }