{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA342821020", "communityStandardTitle": [ "NM_170707.4(LMNA):c.1196G>T (p.Arg399Leu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.156106043G>T?assembly=hg19", "id": "chr1:g.156106043G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.156136252G>T?assembly=hg38", "id": "chr1:g.156136252G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/267607563", "rs": 267607563 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-156136252-G-T?dataset=gnomad_r4", "id": "1-156136252-G-T", "variant": "1:156136252 G / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 156136252, "referenceAllele": "G", "start": 156136251 } ], "hgvs": [ "NC_000001.11:g.156136252G>T", "CM000663.2:g.156136252G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 156106043, "referenceAllele": "G", "start": 156106042 } ], "hgvs": [ "NC_000001.10:g.156106043G>T", "CM000663.1:g.156106043G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 154372667, "referenceAllele": "G", "start": 154372666 } ], "hgvs": [ "NC_000001.9:g.154372667G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 58680, "referenceAllele": "G", "start": 58679 } ], "hgvs": [ "NG_008692.2:g.58680G>T", "LRG_254:g.58680G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001170" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 947, "referenceAllele": "G", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000504687.7:c.638G>T" ], "proteinEffect": { "hgvs": "ENSP00000426535.3:p.Arg213Leu", "hgvsWellDefined": "ENSP00000426535.3:p.Arg213Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914182" }, { "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000498722.3:n.428G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825488" }, { "coordinates": [ { "allele": "T", "end": 1410, "referenceAllele": "G", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000682650.1:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000506904.1:p.Arg399Leu", "hgvsWellDefined": "ENSP00000506904.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS827639" }, { "coordinates": [ { "allele": "T", "end": 1411, "referenceAllele": "G", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000683032.1:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000506771.1:p.Arg399Leu", "hgvsWellDefined": "ENSP00000506771.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS828019" }, { "coordinates": [ { "allele": "T", "end": 1411, "referenceAllele": "G", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000684195.1:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000508220.1:p.Arg399Leu", "hgvsWellDefined": "ENSP00000508220.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS829153" }, { "coordinates": [ { "allele": "T", "end": 1479, "referenceAllele": "G", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000361308.9:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000355292.6:p.Arg399Leu", "hgvsWellDefined": "ENSP00000355292.6:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS749441" }, { "coordinates": [ { "allele": "T", "end": 1404, "referenceAllele": "G", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368300.9:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000357283.4:p.Arg399Leu", "hgvsWellDefined": "ENSP00000357283.4:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS750181", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368300.9:c.1196G>T" }, "RefSeq": { "hgvs": "NM_170707.4:c.1196G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357283.4:p.Arg399Leu" }, "RefSeq": { "hgvs": "NP_733821.1:p.Arg399Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 1571, "referenceAllele": "G", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000496738.6:n.1571G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757845" }, { "coordinates": [ { "allele": "T", "end": 1409, "referenceAllele": "G", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674518.1:c.*546G>T" ], "proteinEffect": { "hgvs": "ENSP00000502261.1:n.*546G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774474" }, { "coordinates": [ { "allele": "T", "end": 1594, "referenceAllele": "G", "start": 1593 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674600.1:c.*995G>T" ], "proteinEffect": { "hgvs": "ENSP00000501666.1:n.*995G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774544" }, { "coordinates": [ { "allele": "T", "end": 1571, "referenceAllele": "G", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674720.1:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000502798.1:p.Arg399Leu", "hgvsWellDefined": "ENSP00000502798.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS774644" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "G", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675431.1:n.889G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775256" }, { "coordinates": [ { "allele": "T", "end": 1315, "referenceAllele": "G", "start": 1314 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675455.1:c.*996G>T" ], "proteinEffect": { "hgvs": "ENSP00000501795.1:n.*996G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775275" }, { "coordinates": [ { "allele": "T", "end": 1571, "referenceAllele": "G", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675667.1:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000501803.1:p.Arg399Leu", "hgvsWellDefined": "ENSP00000501803.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS775456" }, { "coordinates": [ { "allele": "T", "end": 1257, "referenceAllele": "G", "start": 1256 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675874.1:c.*667G>T" ], "proteinEffect": { "hgvs": "ENSP00000501851.1:n.*667G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775638" }, { "coordinates": [ { "allele": "T", "end": 1444, "referenceAllele": "G", "start": 1443 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675881.1:c.*207G>T" ], "proteinEffect": { "hgvs": "ENSP00000501670.1:n.*207G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775644" }, { "coordinates": [ { "allele": "T", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675939.1:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000502256.1:p.Arg399Leu", "hgvsWellDefined": "ENSP00000502256.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS775693" }, { "coordinates": [ { "allele": "T", "end": 1571, "referenceAllele": "G", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675989.1:n.1571G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775733" }, { "coordinates": [ { "allele": "T", "end": 1546, "referenceAllele": "G", "start": 1545 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676208.1:c.*299G>T" ], "proteinEffect": { "hgvs": "ENSP00000502468.1:n.*299G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775924" }, { "coordinates": [ { "allele": "T", "end": 1571, "referenceAllele": "G", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676283.1:n.1571G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775987" }, { "coordinates": [ { "allele": "T", "end": 2037, "referenceAllele": "G", "start": 2036 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676385.2:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000502091.1:p.Arg399Leu", "hgvsWellDefined": "ENSP00000502091.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS776075" }, { "coordinates": [ { "allele": "T", "end": 1454, "referenceAllele": "G", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676434.1:c.*207G>T" ], "proteinEffect": { "hgvs": "ENSP00000501648.1:n.*207G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776116" }, { "coordinates": [ { "allele": "T", "end": 1404, "referenceAllele": "G", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000677389.1:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000503633.1:p.Arg399Leu", "hgvsWellDefined": "ENSP00000503633.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS777051", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677389.1:c.1196G>T" }, "RefSeq": { "hgvs": "NM_005572.4:c.1196G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000503633.1:p.Arg399Leu" }, "RefSeq": { "hgvs": "NP_005563.1:p.Arg399Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000347559.6:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000292304.3:p.Arg399Leu", "hgvsWellDefined": "ENSP00000292304.3:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247316" }, { "coordinates": [ { "allele": "T", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000361308.8:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000355292.5:p.Arg399Leu", "hgvsWellDefined": "ENSP00000355292.5:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247226" }, { "coordinates": [ { "allele": "T", "end": 1055, "referenceAllele": "G", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368297.5:c.953G>T" ], "proteinEffect": { "hgvs": "ENSP00000357280.1:p.Arg318Leu", "hgvsWellDefined": "ENSP00000357280.1:p.Arg318Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247394" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "G", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368298.2:n.460G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS266891" }, { "coordinates": [ { "allele": "T", "end": 1393, "referenceAllele": "G", "start": 1392 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368299.7:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000357282.3:p.Arg399Leu", "hgvsWellDefined": "ENSP00000357282.3:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247280" }, { "coordinates": [ { "allele": "T", "end": 1408, "referenceAllele": "G", "start": 1407 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368300.8:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000357283.4:p.Arg399Leu", "hgvsWellDefined": "ENSP00000357283.4:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247209" }, { "coordinates": [ { "allele": "T", "end": 1837, "referenceAllele": "G", "start": 1836 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368301.6:c.1196G>T" ], "proteinEffect": { "hgvs": "ENSP00000357284.2:p.Arg399Leu", "hgvsWellDefined": "ENSP00000357284.2:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS246645" }, { "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "G", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000448611.6:c.860G>T" ], "proteinEffect": { "hgvs": "ENSP00000395597.2:p.Arg287Leu", "hgvsWellDefined": "ENSP00000395597.2:p.Arg287Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247357" }, { "coordinates": [ { "allele": "T", "end": 1019, "referenceAllele": "G", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000473598.6:c.899G>T" ], "proteinEffect": { "hgvs": "ENSP00000421821.1:p.Arg300Leu", "hgvsWellDefined": "ENSP00000421821.1:p.Arg300Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247207" }, { "coordinates": [ { "allele": "T", "end": 581, "referenceAllele": "G", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000496738.5:n.581G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS333133" }, { "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000498722.2:n.428G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS334667" }, { "coordinates": [ { "allele": "T", "end": 74, "referenceAllele": "G", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000508500.1:c.74G>T" ], "proteinEffect": { "hgvs": "ENSP00000424977.1:p.Arg25Leu", "hgvsWellDefined": "ENSP00000424977.1:p.Arg25Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247421" }, { "coordinates": [ { "allele": "T", "end": 947, "referenceAllele": "G", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001257374.2:c.860G>T" ], "proteinEffect": { "hgvs": "NP_001244303.1:p.Arg287Leu", "hgvsWellDefined": "NP_001244303.1:p.Arg287Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS019616" }, { "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "G", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282624.1:c.953G>T" ], "proteinEffect": { "hgvs": "NP_001269553.1:p.Arg318Leu", "hgvsWellDefined": "NP_001269553.1:p.Arg318Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS022104" }, { "coordinates": [ { "allele": "T", "end": 1869, "referenceAllele": "G", "start": 1868 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282625.1:c.1196G>T" ], "proteinEffect": { "hgvs": "NP_001269554.1:p.Arg399Leu", "hgvsWellDefined": "NP_001269554.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS022105" }, { "coordinates": [ { "allele": "T", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282626.1:c.1196G>T" ], "proteinEffect": { "hgvs": "NP_001269555.1:p.Arg399Leu", "hgvsWellDefined": "NP_001269555.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS022106" }, { "coordinates": [ { "allele": "T", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_005572.3:c.1196G>T", "LRG_254t1:c.1196G>T" ], "proteinEffect": { "hgvs": "NP_005563.1:p.Arg399Leu", "hgvsWellDefined": "NP_005563.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS030662" }, { "@id": "http://reg.genome.network/allele/PA3064051125", "coordinates": [ { "allele": "T", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170707.3:c.1196G>T" ], "proteinEffect": { "hgvs": "NP_733821.1:p.Arg399Leu", "hgvsWellDefined": "NP_733821.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS042563" }, { "coordinates": [ { "allele": "T", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170708.3:c.1196G>T" ], "proteinEffect": { "hgvs": "NP_733822.1:p.Arg399Leu", "hgvsWellDefined": "NP_733822.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS042564" }, { "coordinates": [ { "allele": "T", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509533.1:c.860G>T" ], "proteinEffect": { "hgvs": "XP_011507835.1:p.Arg287Leu", "hgvsWellDefined": "XP_011507835.1:p.Arg287Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS076800" }, { "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "G", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509534.1:c.572G>T" ], "proteinEffect": { "hgvs": "XP_011507836.1:p.Arg191Leu", "hgvsWellDefined": "XP_011507836.1:p.Arg191Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS076801" }, { "coordinates": [ { "allele": "T", "end": 1485, "referenceAllele": "G", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XR_921781.1:n.1485G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118967" }, { "coordinates": [ { "allele": "T", "end": 982, "referenceAllele": "G", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509534.2:c.572G>T" ], "proteinEffect": { "hgvs": "XP_011507836.1:p.Arg191Leu", "hgvsWellDefined": "XP_011507836.1:p.Arg191Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS541310" }, { "coordinates": [ { "allele": "T", "end": 1483, "referenceAllele": "G", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XR_921781.2:n.1483G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606864" }, { "@id": "http://reg.genome.network/allele/PA3064051125", "coordinates": [ { "allele": "T", "end": 1404, "referenceAllele": "G", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170707.4:c.1196G>T" ], "proteinEffect": { "hgvs": "NP_733821.1:p.Arg399Leu", "hgvsWellDefined": "NP_733821.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS672588", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368300.9:c.1196G>T" }, "RefSeq": { "hgvs": "NM_170707.4:c.1196G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357283.4:p.Arg399Leu" }, "RefSeq": { "hgvs": "NP_733821.1:p.Arg399Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 894, "referenceAllele": "G", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001257374.3:c.860G>T" ], "proteinEffect": { "hgvs": "NP_001244303.1:p.Arg287Leu", "hgvsWellDefined": "NP_001244303.1:p.Arg287Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS680726" }, { "coordinates": [ { "allele": "T", "end": 1404, "referenceAllele": "G", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282626.2:c.1196G>T" ], "proteinEffect": { "hgvs": "NP_001269555.1:p.Arg399Leu", "hgvsWellDefined": "NP_001269555.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS681840" }, { "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282624.2:c.953G>T" ], "proteinEffect": { "hgvs": "NP_001269553.1:p.Arg318Leu", "hgvsWellDefined": "NP_001269553.1:p.Arg318Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS715878" }, { "coordinates": [ { "allele": "T", "end": 1842, "referenceAllele": "G", "start": 1841 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282625.2:c.1196G>T" ], "proteinEffect": { "hgvs": "NP_001269554.1:p.Arg399Leu", "hgvsWellDefined": "NP_001269554.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS715879" }, { "coordinates": [ { "allele": "T", "end": 1404, "referenceAllele": "G", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_005572.4:c.1196G>T" ], "proteinEffect": { "hgvs": "NP_005563.1:p.Arg399Leu", "hgvsWellDefined": "NP_005563.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS727649", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677389.1:c.1196G>T" }, "RefSeq": { "hgvs": "NM_005572.4:c.1196G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000503633.1:p.Arg399Leu" }, "RefSeq": { "hgvs": "NP_005563.1:p.Arg399Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 1404, "referenceAllele": "G", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170708.4:c.1196G>T" ], "proteinEffect": { "hgvs": "NP_733822.1:p.Arg399Leu", "hgvsWellDefined": "NP_733822.1:p.Arg399Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS729502" } ], "type": "nucleotide" }