{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2190855784", "communityStandardTitle": [ "NM_172217.5(IL16):c.3135A= (p.Thr1045=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/11073001", "rs": 11073001 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 81300461, "referenceAllele": "A", "start": 81300460 } ], "hgvs": [ "NC_000015.10:g.81300461A=", "CM000677.2:g.81300461A=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 81592802, "referenceAllele": "A", "start": 81592801 } ], "hgvs": [ "NC_000015.9:g.81592802A=", "CM000677.1:g.81592802A=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 79379857, "referenceAllele": "A", "start": 79379856 } ], "hgvs": [ "NC_000015.8:g.79379857A=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 108584, "referenceAllele": "A", "start": 108583 } ], "hgvs": [ "NG_029933.1:g.108584A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS004795" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3421, "referenceAllele": "A", "start": 3420 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "ENST00000302987.10:c.3276A=" ], "proteinEffect": { "hgvs": "ENSP00000302935.5:p.Thr1092=" }, "referenceSequence": "http://reg.genome.network/refseq/RS904359" }, { "coordinates": [ { "allele": "A", "end": 3623, "referenceAllele": "A", "start": 3622 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "ENST00000706926.1:c.3135A=" ], "proteinEffect": { "hgvs": "ENSP00000516648.1:p.Thr1045=" }, "referenceSequence": "http://reg.genome.network/refseq/RS913266" }, { "coordinates": [ { "allele": "A", "end": 3533, "referenceAllele": "A", "start": 3532 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "ENST00000302987.9:c.3276A=" ], "proteinEffect": { "hgvs": "ENSP00000302935.5:p.Thr1092=" }, "referenceSequence": "http://reg.genome.network/refseq/RS823754" }, { "coordinates": [ { "allele": "A", "end": 3510, "referenceAllele": "A", "start": 3509 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "ENST00000683961.1:c.3135A=" ], "proteinEffect": { "hgvs": "ENSP00000508085.1:p.Thr1045=" }, "referenceSequence": "http://reg.genome.network/refseq/RS828924", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000683961.1:c.3135A=" }, "RefSeq": { "hgvs": "NM_172217.5:c.3135A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000508085.1:p.Thr1045=" }, "RefSeq": { "hgvs": "NP_757366.2:p.Thr1045=" } } } }, { "coordinates": [ { "allele": "A", "end": 3135, "referenceAllele": "A", "start": 3134 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "ENST00000302987.8:c.3135A=" ], "proteinEffect": { "hgvs": "ENSP00000302935.4:p.Thr1045=" }, "referenceSequence": "http://reg.genome.network/refseq/RS255261" }, { "coordinates": [ { "allele": "A", "end": 3956, "referenceAllele": "A", "start": 3955 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "ENST00000360547.9:c.*2312A=" ], "proteinEffect": { "hgvs": "ENSP00000456972.1:n.*2312A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS265172" }, { "coordinates": [ { "allele": "A", "end": 1248, "referenceAllele": "A", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "ENST00000394652.6:c.1032A=" ], "proteinEffect": { "hgvs": "ENSP00000378147.2:p.Thr344=" }, "referenceSequence": "http://reg.genome.network/refseq/RS276272" }, { "coordinates": [ { "allele": "A", "end": 3495, "referenceAllele": "A", "start": 3494 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "ENST00000394660.6:c.3135A=" ], "proteinEffect": { "hgvs": "ENSP00000378155.2:p.Thr1045=" }, "referenceSequence": "http://reg.genome.network/refseq/RS276275" }, { "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "A", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "ENST00000558332.3:c.1046A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS373721" }, { "coordinates": [ { "allele": "A", "end": 1249, "referenceAllele": "A", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "ENST00000558857.5:c.1249A=" ], "proteinEffect": { "hgvs": "ENSP00000453131.1:n.1249A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS374125" }, { "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "A", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "ENST00000559388.4:c.1032A=" ], "proteinEffect": { "hgvs": "ENSP00000458125.2:p.Thr344=" }, "referenceSequence": "http://reg.genome.network/refseq/RS374543" }, { "coordinates": [ { "allele": "A", "end": 3105, "referenceAllele": "A", "start": 3104 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "ENST00000560115.5:c.3105A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS375109" }, { "coordinates": [ { "allele": "A", "end": 3496, "referenceAllele": "A", "start": 3495 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NM_001172128.1:c.3135A=" ], "proteinEffect": { "hgvs": "NP_001165599.1:p.Thr1045=" }, "referenceSequence": "http://reg.genome.network/refseq/RS015426" }, { "@id": "http://reg.genome.network/allele/PA3081909528", "coordinates": [ { "allele": "A", "end": 1248, "referenceAllele": "A", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NM_004513.5:c.1032A=" ], "proteinEffect": { "hgvs": "NP_004504.3:p.Thr344=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029671" }, { "coordinates": [ { "allele": "A", "end": 3236, "referenceAllele": "A", "start": 3235 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NM_172217.3:c.3135A=" ], "proteinEffect": { "hgvs": "NP_757366.2:p.Thr1045=" }, "referenceSequence": "http://reg.genome.network/refseq/RS042694" }, { "coordinates": [ { "allele": "A", "end": 3533, "referenceAllele": "A", "start": 3532 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "XM_005254342.2:c.3276A=" ], "proteinEffect": { "hgvs": "XP_005254399.1:p.Thr1092=" }, "referenceSequence": "http://reg.genome.network/refseq/RS060598" }, { "coordinates": [ { "allele": "A", "end": 2666, "referenceAllele": "A", "start": 2665 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "XM_005254346.3:c.1032A=" ], "proteinEffect": { "hgvs": "XP_005254403.1:p.Thr344=" }, "referenceSequence": "http://reg.genome.network/refseq/RS060599" }, { "coordinates": [ { "allele": "A", "end": 3098, "referenceAllele": "A", "start": 3097 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "XM_011521518.1:c.2997A=" ], "proteinEffect": { "hgvs": "XP_011519820.1:p.Thr999=" }, "referenceSequence": "http://reg.genome.network/refseq/RS088678" }, { "coordinates": [ { "allele": "A", "end": 3236, "referenceAllele": "A", "start": 3235 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "XM_011521519.1:c.3135A=" ], "proteinEffect": { "hgvs": "XP_011519821.1:p.Thr1045=" }, "referenceSequence": "http://reg.genome.network/refseq/RS088679" }, { "coordinates": [ { "allele": "A", "end": 3511, "referenceAllele": "A", "start": 3510 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "XM_011521520.1:c.3135A=" ], "proteinEffect": { "hgvs": "XP_011519822.1:p.Thr1045=" }, "referenceSequence": "http://reg.genome.network/refseq/RS088680" }, { "coordinates": [ { "allele": "A", "end": 3312, "referenceAllele": "A", "start": 3311 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "XR_931805.1:n.3312A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS127889" }, { "coordinates": [ { "allele": "A", "end": 3700, "referenceAllele": "A", "start": 3699 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NM_001352684.1:c.1305A=" ], "proteinEffect": { "hgvs": "NP_001339613.1:p.Thr435=" }, "referenceSequence": "http://reg.genome.network/refseq/RS521092" }, { "coordinates": [ { "allele": "A", "end": 3659, "referenceAllele": "A", "start": 3658 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NM_001352685.1:c.2625A=" ], "proteinEffect": { "hgvs": "NP_001339614.1:p.Thr875=" }, "referenceSequence": "http://reg.genome.network/refseq/RS521093" }, { "coordinates": [ { "allele": "A", "end": 3623, "referenceAllele": "A", "start": 3622 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NM_001352686.1:c.3288A=" ], "proteinEffect": { "hgvs": "NP_001339615.1:p.Thr1096=" }, "referenceSequence": "http://reg.genome.network/refseq/RS521094" }, { "coordinates": [ { "allele": "A", "end": 3511, "referenceAllele": "A", "start": 3510 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NM_172217.4:c.3135A=" ], "proteinEffect": { "hgvs": "NP_757366.2:p.Thr1045=" }, "referenceSequence": "http://reg.genome.network/refseq/RS526732" }, { "coordinates": [ { "allele": "A", "end": 3347, "referenceAllele": "A", "start": 3346 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NR_148035.1:n.3347A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS531008" }, { "coordinates": [ { "allele": "A", "end": 3495, "referenceAllele": "A", "start": 3494 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NM_001172128.2:c.3135A=" ], "proteinEffect": { "hgvs": "NP_001165599.1:p.Thr1045=" }, "referenceSequence": "http://reg.genome.network/refseq/RS678736" }, { "coordinates": [ { "allele": "A", "end": 3699, "referenceAllele": "A", "start": 3698 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NM_001352684.2:c.1305A=" ], "proteinEffect": { "hgvs": "NP_001339613.1:p.Thr435=" }, "referenceSequence": "http://reg.genome.network/refseq/RS689364" }, { "coordinates": [ { "allele": "A", "end": 3658, "referenceAllele": "A", "start": 3657 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NM_001352685.2:c.2625A=" ], "proteinEffect": { "hgvs": "NP_001339614.1:p.Thr875=" }, "referenceSequence": "http://reg.genome.network/refseq/RS689365" }, { "@id": "http://reg.genome.network/allele/PA3081909528", "coordinates": [ { "allele": "A", "end": 1191, "referenceAllele": "A", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NM_004513.6:c.1032A=" ], "proteinEffect": { "hgvs": "NP_004504.3:p.Thr344=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696168" }, { "coordinates": [ { "allele": "A", "end": 3510, "referenceAllele": "A", "start": 3509 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NM_172217.5:c.3135A=" ], "proteinEffect": { "hgvs": "NP_757366.2:p.Thr1045=" }, "referenceSequence": "http://reg.genome.network/refseq/RS700504", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000683961.1:c.3135A=" }, "RefSeq": { "hgvs": "NM_172217.5:c.3135A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000508085.1:p.Thr1045=" }, "RefSeq": { "hgvs": "NP_757366.2:p.Thr1045=" } } } }, { "coordinates": [ { "allele": "A", "end": 3346, "referenceAllele": "A", "start": 3345 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NR_148035.2:n.3346A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS704682" }, { "coordinates": [ { "allele": "A", "end": 3623, "referenceAllele": "A", "start": 3622 } ], "gene": "http://reg.genome.network/gene/GN005980", "geneNCBI_id": 3603, "geneSymbol": "IL16", "hgvs": [ "NM_001352686.2:c.3288A=" ], "proteinEffect": { "hgvs": "NP_001339615.1:p.Thr1096=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720127" } ], "type": "nucleotide" }