{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1950147919", "communityStandardTitle": [ "NM_000543.5(SMPD1):c.1154A= (p.Asn385=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/120074123", "rs": 120074123 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 6393278, "referenceAllele": "A", "start": 6393277 } ], "hgvs": [ "NC_000011.10:g.6393278A=", "CM000673.2:g.6393278A=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 6414508, "referenceAllele": "A", "start": 6414507 } ], "hgvs": [ "NC_000011.9:g.6414508A=", "CM000673.1:g.6414508A=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 6371084, "referenceAllele": "A", "start": 6371083 } ], "hgvs": [ "NC_000011.8:g.6371084A=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 7854, "referenceAllele": "A", "start": 7853 } ], "hgvs": [ "NG_011780.1:g.7854A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001964" }, { "coordinates": [ { "allele": "T", "end": 31137, "referenceAllele": "T", "start": 31136 } ], "hgvs": [ "NG_029615.1:g.31137T=" ], "referenceSequence": "http://reg.genome.network/refseq/RS004532" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1279, "referenceAllele": "A", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000342245.9:c.1154A=" ], "proteinEffect": { "hgvs": "ENSP00000340409.4:p.Asn385=" }, "referenceSequence": "http://reg.genome.network/refseq/RS748051", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342245.9:c.1154A=" }, "RefSeq": { "hgvs": "NM_000543.5:c.1154A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000340409.4:p.Asn385=" }, "RefSeq": { "hgvs": "NP_000534.3:p.Asn385=" } } } }, { "coordinates": [ { "allele": "A", "end": 1322, "referenceAllele": "A", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000342245.8:c.1154A=" ], "proteinEffect": { "hgvs": "ENSP00000340409.4:p.Asn385=" }, "referenceSequence": "http://reg.genome.network/refseq/RS261512" }, { "coordinates": [ { "allele": "A", "end": 320, "endIntronDirection": "-", "endIntronOffset": 338, "referenceAllele": "A", "start": 320, "startIntronDirection": "-", "startIntronOffset": 339 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000526280.1:c.321-339A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS352172" }, { "coordinates": [ { "allele": "A", "end": 1275, "referenceAllele": "A", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000527275.5:c.1151A=" ], "proteinEffect": { "hgvs": "ENSP00000435350.1:p.Asn384=" }, "referenceSequence": "http://reg.genome.network/refseq/RS353010" }, { "coordinates": [ { "allele": "A", "end": 518, "referenceAllele": "A", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000531303.5:c.501A=" ], "proteinEffect": { "hgvs": "ENSP00000432625.1:p.Glu167=" }, "referenceSequence": "http://reg.genome.network/refseq/RS356421" }, { "coordinates": [ { "allele": "A", "end": 1187, "endIntronDirection": "-", "endIntronOffset": 338, "referenceAllele": "A", "start": 1187, "startIntronDirection": "-", "startIntronOffset": 339 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000533123.5:c.1092-339A=" ], "proteinEffect": { "hgvs": "ENSP00000435950.1:n.1092-339A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS357940" }, { "coordinates": [ { "allele": "A", "end": 1320, "referenceAllele": "A", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000534405.5:c.1194A=" ], "proteinEffect": { "hgvs": "ENSP00000434353.1:p.Glu398=" }, "referenceSequence": "http://reg.genome.network/refseq/RS359023" }, { "@id": "http://reg.genome.network/allele/PA3077715467", "coordinates": [ { "allele": "A", "end": 1339, "referenceAllele": "A", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_000543.4:c.1154A=" ], "proteinEffect": { "hgvs": "NP_000534.3:p.Asn385=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006601" }, { "coordinates": [ { "allele": "A", "end": 1336, "referenceAllele": "A", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001007593.2:c.1151A=" ], "proteinEffect": { "hgvs": "NP_001007594.2:p.Asn384=" }, "referenceSequence": "http://reg.genome.network/refseq/RS007956" }, { "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "A", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_005253075.3:c.1154A=" ], "proteinEffect": { "hgvs": "XP_005253132.1:p.Asn385=" }, "referenceSequence": "http://reg.genome.network/refseq/RS060144" }, { "coordinates": [ { "allele": "A", "end": 1429, "endIntronDirection": "-", "endIntronOffset": 338, "referenceAllele": "A", "start": 1429, "startIntronDirection": "-", "startIntronOffset": 339 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_011520303.1:c.1132-339A=" ], "proteinEffect": { "hgvs": "XP_011518605.1:n.1132-339A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS087471" }, { "coordinates": [ { "allele": "A", "end": 1429, "endIntronDirection": "-", "endIntronOffset": 338, "referenceAllele": "A", "start": 1429, "startIntronDirection": "-", "startIntronOffset": 339 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_011520304.1:c.1132-339A=" ], "proteinEffect": { "hgvs": "XP_011518606.1:n.1132-339A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS087472" }, { "coordinates": [ { "allele": "A", "end": 1492, "referenceAllele": "A", "start": 1491 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XR_930886.1:n.1492A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS127013" }, { "coordinates": [ { "allele": "A", "end": 1339, "referenceAllele": "A", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318087.1:c.1154A=" ], "proteinEffect": { "hgvs": "NP_001305016.1:p.Asn385=" }, "referenceSequence": "http://reg.genome.network/refseq/RS512720" }, { "coordinates": [ { "allele": "A", "end": 1379, "referenceAllele": "A", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318088.1:c.233A=" ], "proteinEffect": { "hgvs": "NP_001305017.1:p.Asn78=" }, "referenceSequence": "http://reg.genome.network/refseq/RS512721" }, { "coordinates": [ { "allele": "A", "end": 1256, "endIntronDirection": "-", "endIntronOffset": 338, "referenceAllele": "A", "start": 1256, "startIntronDirection": "-", "startIntronOffset": 339 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001365135.1:c.1132-339A=" ], "proteinEffect": { "hgvs": "NP_001352064.1:n.1132-339A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS524035" }, { "coordinates": [ { "allele": "A", "end": 1276, "endIntronDirection": "-", "endIntronOffset": 338, "referenceAllele": "A", "start": 1276, "startIntronDirection": "-", "startIntronOffset": 339 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_027400.2:n.1277-339A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS527197" }, { "coordinates": [ { "allele": "A", "end": 686, "referenceAllele": "A", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_134502.1:n.686A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS527622" }, { "coordinates": [ { "allele": "A", "end": 1256, "endIntronDirection": "-", "endIntronOffset": 338, "referenceAllele": "A", "start": 1256, "startIntronDirection": "-", "startIntronOffset": 339 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_011520304.2:c.1132-339A=" ], "proteinEffect": { "hgvs": "XP_011518606.1:n.1132-339A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS545676" }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "A", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XR_001747940.2:n.1319A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS596017" }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "A", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XR_002957158.1:n.1319A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS603294" }, { "@id": "http://reg.genome.network/allele/PA3077715467", "coordinates": [ { "allele": "A", "end": 1279, "referenceAllele": "A", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_000543.5:c.1154A=" ], "proteinEffect": { "hgvs": "NP_000534.3:p.Asn385=" }, "referenceSequence": "http://reg.genome.network/refseq/RS662482", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342245.9:c.1154A=" }, "RefSeq": { "hgvs": "NM_000543.5:c.1154A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000340409.4:p.Asn385=" }, "RefSeq": { "hgvs": "NP_000534.3:p.Asn385=" } } } }, { "coordinates": [ { "allele": "A", "end": 1276, "referenceAllele": "A", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001007593.3:c.1151A=" ], "proteinEffect": { "hgvs": "NP_001007594.2:p.Asn384=" }, "referenceSequence": "http://reg.genome.network/refseq/RS675298" }, { "coordinates": [ { "allele": "A", "end": 1279, "referenceAllele": "A", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318087.2:c.1154A=" ], "proteinEffect": { "hgvs": "NP_001305016.1:p.Asn385=" }, "referenceSequence": "http://reg.genome.network/refseq/RS684426" }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "A", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318088.2:c.233A=" ], "proteinEffect": { "hgvs": "NP_001305017.1:p.Asn78=" }, "referenceSequence": "http://reg.genome.network/refseq/RS684427" }, { "coordinates": [ { "allele": "A", "end": 1256, "endIntronDirection": "-", "endIntronOffset": 338, "referenceAllele": "A", "start": 1256, "startIntronDirection": "-", "startIntronOffset": 339 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001365135.2:c.1132-339A=" ], "proteinEffect": { "hgvs": "NP_001352064.1:n.1132-339A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690988" }, { "coordinates": [ { "allele": "A", "end": 1216, "endIntronDirection": "-", "endIntronOffset": 338, "referenceAllele": "A", "start": 1216, "startIntronDirection": "-", "startIntronOffset": 339 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_027400.3:n.1217-339A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS701945" }, { "coordinates": [ { "allele": "A", "end": 626, "referenceAllele": "A", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_134502.2:n.626A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS703473" } ], "type": "nucleotide" }