{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1141581405", "communityStandardTitle": [ "NM_001243133.2(NLRP3):c.1055C= (p.Ala352=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908149", "rs": 121908149 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 247424504, "referenceAllele": "C", "start": 247424503 } ], "hgvs": [ "NC_000001.11:g.247424504C=", "CM000663.2:g.247424504C=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 247587806, "referenceAllele": "C", "start": 247587805 } ], "hgvs": [ "NC_000001.10:g.247587806C=", "CM000663.1:g.247587806C=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 245654429, "referenceAllele": "C", "start": 245654428 } ], "hgvs": [ "NC_000001.9:g.245654429C=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "C", "end": 13332, "referenceAllele": "C", "start": 13331 } ], "hgvs": [ "NG_007509.2:g.13332C=", "LRG_197:g.13332C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000629" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1292, "referenceAllele": "C", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000697350.1:c.1055C=" ], "proteinEffect": { "hgvs": "ENSP00000513275.1:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS908721" }, { "coordinates": [ { "allele": "C", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000336119.8:c.1055C=" ], "proteinEffect": { "hgvs": "ENSP00000337383.4:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS747550", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000336119.8:c.1055C=" }, "RefSeq": { "hgvs": "NM_001243133.2:c.1055C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000337383.4:p.Ala352=" }, "RefSeq": { "hgvs": "NP_001230062.1:p.Ala352=" } } } }, { "coordinates": [ { "allele": "C", "end": 1803, "referenceAllele": "C", "start": 1802 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000348069.7:c.1055C=" ], "proteinEffect": { "hgvs": "ENSP00000294752.4:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS748355" }, { "coordinates": [ { "allele": "C", "end": 1803, "referenceAllele": "C", "start": 1802 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000366496.7:c.1055C=" ], "proteinEffect": { "hgvs": "ENSP00000355452.3:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS749794" }, { "coordinates": [ { "allele": "C", "end": 1825, "referenceAllele": "C", "start": 1824 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000391827.3:c.1055C=" ], "proteinEffect": { "hgvs": "ENSP00000375703.3:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS752934" }, { "coordinates": [ { "allele": "C", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000391828.8:c.1055C=" ], "proteinEffect": { "hgvs": "ENSP00000375704.4:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS752935" }, { "coordinates": [ { "allele": "C", "end": 1236, "referenceAllele": "C", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000474792.2:c.1055C=" ], "proteinEffect": { "hgvs": "ENSP00000493937.2:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS757129" }, { "coordinates": [ { "allele": "C", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000642259.1:c.920C=" ], "proteinEffect": { "hgvs": "ENSP00000494332.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS766644" }, { "coordinates": [ { "allele": "C", "end": 1126, "referenceAllele": "C", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000643234.2:c.1055C=" ], "proteinEffect": { "hgvs": "ENSP00000493674.2:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS767166" }, { "coordinates": [ { "allele": "C", "end": 1807, "referenceAllele": "C", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000336119.7:c.1061C=" ], "proteinEffect": { "hgvs": "ENSP00000337383.3:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS260252" }, { "coordinates": [ { "allele": "C", "end": 1807, "referenceAllele": "C", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000348069.6:c.1061C=" ], "proteinEffect": { "hgvs": "ENSP00000294752.3:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS262434" }, { "coordinates": [ { "allele": "C", "end": 1804, "referenceAllele": "C", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000366496.6:c.1061C=" ], "proteinEffect": { "hgvs": "ENSP00000355452.2:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS265853" }, { "coordinates": [ { "allele": "C", "end": 1841, "referenceAllele": "C", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000366497.6:c.1061C=" ], "proteinEffect": { "hgvs": "ENSP00000355453.2:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS265854" }, { "coordinates": [ { "allele": "C", "end": 1061, "referenceAllele": "C", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000391827.2:c.1061C=" ], "proteinEffect": { "hgvs": "ENSP00000375703.2:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS274779" }, { "coordinates": [ { "allele": "C", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000391828.7:c.1061C=" ], "proteinEffect": { "hgvs": "ENSP00000375704.3:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS274780" }, { "coordinates": [ { "allele": "C", "end": 1236, "referenceAllele": "C", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000474792.1:n.1236C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS316220" }, { "coordinates": [ { "allele": "C", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001079821.2:c.1061C=" ], "proteinEffect": { "hgvs": "NP_001073289.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS010102" }, { "coordinates": [ { "allele": "C", "end": 1841, "referenceAllele": "C", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001127461.2:c.1061C=" ], "proteinEffect": { "hgvs": "NP_001120933.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS011621" }, { "coordinates": [ { "allele": "C", "end": 1807, "referenceAllele": "C", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001127462.2:c.1061C=" ], "proteinEffect": { "hgvs": "NP_001120934.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS011622" }, { "coordinates": [ { "allele": "C", "end": 1807, "referenceAllele": "C", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001243133.1:c.1055C=" ], "proteinEffect": { "hgvs": "NP_001230062.1:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018417" }, { "@id": "http://reg.genome.network/allele/PA3063916725", "coordinates": [ { "allele": "C", "end": 1807, "referenceAllele": "C", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_004895.4:c.1061C=", "LRG_197t1:c.1061C=" ], "proteinEffect": { "hgvs": "NP_004886.3:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS030035" }, { "coordinates": [ { "allele": "C", "end": 1807, "referenceAllele": "C", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_183395.2:c.1061C=" ], "proteinEffect": { "hgvs": "NP_899632.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS044275" }, { "coordinates": [ { "allele": "C", "end": 1996, "referenceAllele": "C", "start": 1995 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_005273036.2:c.1061C=" ], "proteinEffect": { "hgvs": "XP_005273093.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS067427" }, { "coordinates": [ { "allele": "C", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_005273037.2:c.1061C=" ], "proteinEffect": { "hgvs": "XP_005273094.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS067428" }, { "coordinates": [ { "allele": "C", "end": 1909, "referenceAllele": "C", "start": 1908 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544048.1:c.1061C=" ], "proteinEffect": { "hgvs": "XP_011542350.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110961" }, { "coordinates": [ { "allele": "C", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544049.1:c.1061C=" ], "proteinEffect": { "hgvs": "XP_011542351.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110962" }, { "coordinates": [ { "allele": "C", "end": 2440, "referenceAllele": "C", "start": 2439 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544050.1:c.1061C=" ], "proteinEffect": { "hgvs": "XP_011542352.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110963" }, { "coordinates": [ { "allele": "C", "end": 1443, "referenceAllele": "C", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544051.1:c.1061C=" ], "proteinEffect": { "hgvs": "XP_011542353.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110964" }, { "coordinates": [ { "allele": "C", "end": 1909, "referenceAllele": "C", "start": 1908 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544052.1:c.1061C=" ], "proteinEffect": { "hgvs": "XP_011542354.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110965" }, { "coordinates": [ { "allele": "C", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544053.1:c.1061C=" ], "proteinEffect": { "hgvs": "XP_011542355.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110966" }, { "coordinates": [ { "allele": "C", "end": 1909, "referenceAllele": "C", "start": 1908 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544054.1:c.1061C=" ], "proteinEffect": { "hgvs": "XP_011542356.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110967" }, { "coordinates": [ { "allele": "C", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544055.1:c.1061C=" ], "proteinEffect": { "hgvs": "XP_011542357.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110968" }, { "coordinates": [ { "allele": "C", "end": 1946, "referenceAllele": "C", "start": 1945 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544048.2:c.1061C=" ], "proteinEffect": { "hgvs": "XP_011542350.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS555487" }, { "coordinates": [ { "allele": "C", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_017000181.1:c.1061C=" ], "proteinEffect": { "hgvs": "XP_016855670.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS556591" }, { "coordinates": [ { "allele": "C", "end": 1368, "referenceAllele": "C", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_017000182.1:c.1061C=" ], "proteinEffect": { "hgvs": "XP_016855671.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS556592" }, { "coordinates": [ { "allele": "C", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_017000183.1:c.1061C=" ], "proteinEffect": { "hgvs": "XP_016855672.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS556593" }, { "coordinates": [ { "allele": "C", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_017000184.1:c.1061C=" ], "proteinEffect": { "hgvs": "XP_016855673.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS556594" }, { "coordinates": [ { "allele": "C", "end": 1946, "referenceAllele": "C", "start": 1945 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_024452862.1:c.1061C=" ], "proteinEffect": { "hgvs": "XP_024308630.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS586250" }, { "coordinates": [ { "allele": "C", "end": 1946, "referenceAllele": "C", "start": 1945 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_024452874.1:c.1061C=" ], "proteinEffect": { "hgvs": "XP_024308642.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS586262" }, { "coordinates": [ { "allele": "C", "end": 1182, "referenceAllele": "C", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001079821.3:c.1055C=" ], "proteinEffect": { "hgvs": "NP_001073289.2:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676225" }, { "coordinates": [ { "allele": "C", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001127461.3:c.1055C=" ], "proteinEffect": { "hgvs": "NP_001120933.2:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676895" }, { "coordinates": [ { "allele": "C", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001127462.3:c.1055C=" ], "proteinEffect": { "hgvs": "NP_001120934.2:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676896" }, { "coordinates": [ { "allele": "C", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001243133.2:c.1055C=" ], "proteinEffect": { "hgvs": "NP_001230062.1:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS680181", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000336119.8:c.1055C=" }, "RefSeq": { "hgvs": "NM_001243133.2:c.1055C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000337383.4:p.Ala352=" }, "RefSeq": { "hgvs": "NP_001230062.1:p.Ala352=" } } } }, { "@id": "http://reg.genome.network/allele/PA3063916725", "coordinates": [ { "allele": "C", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_004895.5:c.1061C=" ], "proteinEffect": { "hgvs": "NP_004886.3:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696268" }, { "coordinates": [ { "allele": "C", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_183395.3:c.1055C=" ], "proteinEffect": { "hgvs": "NP_899632.2:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS701178" } ], "type": "nucleotide" }