{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA018472", "communityStandardTitle": [ "NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77822[alleleid]", "alleleId": 77822, "preferredName": "NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66925", "RCV": [ "RCV000057445", "RCV000201054", "RCV001052813" ], "variationId": 66925 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.156104651G>A?assembly=hg19", "id": "chr1:g.156104651G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.156134860G>A?assembly=hg38", "id": "chr1:g.156134860G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/57207746", "rs": 57207746 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 156134860, "referenceAllele": "G", "start": 156134859 } ], "hgvs": [ "NC_000001.11:g.156134860G>A", "CM000663.2:g.156134860G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 156104651, "referenceAllele": "G", "start": 156104650 } ], "hgvs": [ "NC_000001.10:g.156104651G>A", "CM000663.1:g.156104651G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 154371275, "referenceAllele": "G", "start": 154371274 } ], "hgvs": [ "NC_000001.9:g.154371275G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 57288, "referenceAllele": "G", "start": 57287 } ], "hgvs": [ "NG_008692.2:g.57288G>A", "LRG_254:g.57288G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001170" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000504687.7:c.137G>A" ], "proteinEffect": { "hgvs": "ENSP00000426535.3:p.Gly46Glu", "hgvsWellDefined": "ENSP00000426535.3:p.Gly46Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914182" }, { "coordinates": [ { "allele": "A", "end": 909, "referenceAllele": "G", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000682650.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000506904.1:p.Gly232Glu", "hgvsWellDefined": "ENSP00000506904.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS827639" }, { "coordinates": [ { "allele": "A", "end": 910, "referenceAllele": "G", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000683032.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000506771.1:p.Gly232Glu", "hgvsWellDefined": "ENSP00000506771.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS828019" }, { "coordinates": [ { "allele": "A", "end": 910, "referenceAllele": "G", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000684195.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000508220.1:p.Gly232Glu", "hgvsWellDefined": "ENSP00000508220.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS829153" }, { "coordinates": [ { "allele": "A", "end": 978, "referenceAllele": "G", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000361308.9:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000355292.6:p.Gly232Glu", "hgvsWellDefined": "ENSP00000355292.6:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS749441" }, { "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "G", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368300.9:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000357283.4:p.Gly232Glu", "hgvsWellDefined": "ENSP00000357283.4:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS750181", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368300.9:c.695G>A" }, "RefSeq": { "hgvs": "NM_170707.4:c.695G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357283.4:p.Gly232Glu" }, "RefSeq": { "hgvs": "NP_733821.1:p.Gly232Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 1070, "referenceAllele": "G", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000496738.6:n.1070G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757845" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000504687.6:c.31G>A" ], "proteinEffect": { "hgvs": "ENSP00000426535.2:p.Gly11Arg", "hgvsWellDefined": "ENSP00000426535.2:p.Gly11Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS758023" }, { "coordinates": [ { "allele": "A", "end": 908, "referenceAllele": "G", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674518.1:c.*45G>A" ], "proteinEffect": { "hgvs": "ENSP00000502261.1:n.*45G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774474" }, { "coordinates": [ { "allele": "A", "end": 1093, "referenceAllele": "G", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674600.1:c.*494G>A" ], "proteinEffect": { "hgvs": "ENSP00000501666.1:n.*494G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774544" }, { "coordinates": [ { "allele": "A", "end": 1070, "referenceAllele": "G", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674720.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000502798.1:p.Gly232Glu", "hgvsWellDefined": "ENSP00000502798.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS774644" }, { "coordinates": [ { "allele": "A", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675431.1:n.388G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775256" }, { "coordinates": [ { "allele": "A", "end": 814, "referenceAllele": "G", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675455.1:c.*495G>A" ], "proteinEffect": { "hgvs": "ENSP00000501795.1:n.*495G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775275" }, { "coordinates": [ { "allele": "A", "end": 1070, "referenceAllele": "G", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675667.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000501803.1:p.Gly232Glu", "hgvsWellDefined": "ENSP00000501803.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS775456" }, { "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "G", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675874.1:c.*166G>A" ], "proteinEffect": { "hgvs": "ENSP00000501851.1:n.*166G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775638" }, { "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "G", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675881.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000501670.1:p.Gly232Glu", "hgvsWellDefined": "ENSP00000501670.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS775644" }, { "coordinates": [ { "allele": "A", "end": 914, "referenceAllele": "G", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675939.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000502256.1:p.Gly232Glu", "hgvsWellDefined": "ENSP00000502256.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS775693" }, { "coordinates": [ { "allele": "A", "end": 1070, "referenceAllele": "G", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675989.1:n.1070G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775733" }, { "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "G", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676208.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000502468.1:p.Gly232Glu", "hgvsWellDefined": "ENSP00000502468.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS775924" }, { "coordinates": [ { "allele": "A", "end": 1070, "referenceAllele": "G", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676283.1:n.1070G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775987" }, { "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "G", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676385.2:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000502091.1:p.Gly232Glu", "hgvsWellDefined": "ENSP00000502091.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS776075" }, { "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "G", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676434.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000501648.1:p.Gly232Glu", "hgvsWellDefined": "ENSP00000501648.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS776116" }, { "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "G", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000677389.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000503633.1:p.Gly232Glu", "hgvsWellDefined": "ENSP00000503633.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS777051", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677389.1:c.695G>A" }, "RefSeq": { "hgvs": "NM_005572.4:c.695G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000503633.1:p.Gly232Glu" }, "RefSeq": { "hgvs": "NP_005563.1:p.Gly232Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 944, "referenceAllele": "G", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000347559.6:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000292304.3:p.Gly232Glu", "hgvsWellDefined": "ENSP00000292304.3:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247316" }, { "coordinates": [ { "allele": "A", "end": 944, "referenceAllele": "G", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000361308.8:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000355292.5:p.Gly232Glu", "hgvsWellDefined": "ENSP00000355292.5:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247226" }, { "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "G", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368297.5:c.452G>A" ], "proteinEffect": { "hgvs": "ENSP00000357280.1:p.Gly151Glu", "hgvsWellDefined": "ENSP00000357280.1:p.Gly151Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247394" }, { "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368299.7:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000357282.3:p.Gly232Glu", "hgvsWellDefined": "ENSP00000357282.3:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247280" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368300.8:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000357283.4:p.Gly232Glu", "hgvsWellDefined": "ENSP00000357283.4:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247209" }, { "coordinates": [ { "allele": "A", "end": 1336, "referenceAllele": "G", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368301.6:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000357284.2:p.Gly232Glu", "hgvsWellDefined": "ENSP00000357284.2:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS246645" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "G", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000448611.6:c.359G>A" ], "proteinEffect": { "hgvs": "ENSP00000395597.2:p.Gly120Glu", "hgvsWellDefined": "ENSP00000395597.2:p.Gly120Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247357" }, { "coordinates": [ { "allele": "A", "end": 518, "referenceAllele": "G", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000473598.6:c.398G>A" ], "proteinEffect": { "hgvs": "ENSP00000421821.1:p.Gly133Glu", "hgvsWellDefined": "ENSP00000421821.1:p.Gly133Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247207" }, { "coordinates": [ { "allele": "A", "end": 40, "referenceAllele": "G", "start": 39 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000496738.5:n.40G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS333133" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000504687.5:c.446G>A" ], "proteinEffect": { "hgvs": "ENSP00000426535.1:p.Gly149Glu", "hgvsWellDefined": "ENSP00000426535.1:p.Gly149Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247175" }, { "coordinates": [ { "allele": "A", "end": 603, "referenceAllele": "G", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000515459.5:c.*369G>A" ], "proteinEffect": { "hgvs": "ENSP00000424518.1:n.*369G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS344685" }, { "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000515824.1:n.56G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS344959" }, { "@id": "http://reg.genome.network/allele/PA2826443007", "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001257374.2:c.359G>A" ], "proteinEffect": { "hgvs": "NP_001244303.1:p.Gly120Glu", "hgvsWellDefined": "NP_001244303.1:p.Gly120Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS019616" }, { "@id": "http://reg.genome.network/allele/PA2826657513", "coordinates": [ { "allele": "A", "end": 626, "referenceAllele": "G", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282624.1:c.452G>A" ], "proteinEffect": { "hgvs": "NP_001269553.1:p.Gly151Glu", "hgvsWellDefined": "NP_001269553.1:p.Gly151Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS022104" }, { "@id": "http://reg.genome.network/allele/PA2826658776", "coordinates": [ { "allele": "A", "end": 1368, "referenceAllele": "G", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282625.1:c.695G>A" ], "proteinEffect": { "hgvs": "NP_001269554.1:p.Gly232Glu", "hgvsWellDefined": "NP_001269554.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS022105" }, { "@id": "http://reg.genome.network/allele/PA2826660035", "coordinates": [ { "allele": "A", "end": 944, "referenceAllele": "G", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282626.1:c.695G>A" ], "proteinEffect": { "hgvs": "NP_001269555.1:p.Gly232Glu", "hgvsWellDefined": "NP_001269555.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS022106" }, { "@id": "http://reg.genome.network/allele/PA218407", "coordinates": [ { "allele": "A", "end": 944, "referenceAllele": "G", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_005572.3:c.695G>A", "LRG_254t1:c.695G>A" ], "proteinEffect": { "hgvs": "NP_005563.1:p.Gly232Glu", "hgvsWellDefined": "NP_005563.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS030662" }, { "@id": "http://reg.genome.network/allele/PA103963", "coordinates": [ { "allele": "A", "end": 944, "referenceAllele": "G", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170707.3:c.695G>A" ], "proteinEffect": { "hgvs": "NP_733821.1:p.Gly232Glu", "hgvsWellDefined": "NP_733821.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS042563" }, { "@id": "http://reg.genome.network/allele/PA218408", "coordinates": [ { "allele": "A", "end": 944, "referenceAllele": "G", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170708.3:c.695G>A" ], "proteinEffect": { "hgvs": "NP_733822.1:p.Gly232Glu", "hgvsWellDefined": "NP_733822.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS042564" }, { "coordinates": [ { "allele": "A", "end": 441, "referenceAllele": "G", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509533.1:c.359G>A" ], "proteinEffect": { "hgvs": "XP_011507835.1:p.Gly120Glu", "hgvsWellDefined": "XP_011507835.1:p.Gly120Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS076800" }, { "coordinates": [ { "allele": "A", "end": 339, "referenceAllele": "G", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509534.1:c.31G>A" ], "proteinEffect": { "hgvs": "XP_011507836.1:p.Gly11Arg", "hgvsWellDefined": "XP_011507836.1:p.Gly11Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS076801" }, { "coordinates": [ { "allele": "A", "end": 944, "referenceAllele": "G", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XR_921781.1:n.944G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118967" }, { "coordinates": [ { "allele": "A", "end": 441, "referenceAllele": "G", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509534.2:c.31G>A" ], "proteinEffect": { "hgvs": "XP_011507836.1:p.Gly11Arg", "hgvsWellDefined": "XP_011507836.1:p.Gly11Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS541310" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XR_921781.2:n.942G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606864" }, { "@id": "http://reg.genome.network/allele/PA103963", "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "G", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170707.4:c.695G>A" ], "proteinEffect": { "hgvs": "NP_733821.1:p.Gly232Glu", "hgvsWellDefined": "NP_733821.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS672588", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368300.9:c.695G>A" }, "RefSeq": { "hgvs": "NM_170707.4:c.695G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357283.4:p.Gly232Glu" }, "RefSeq": { "hgvs": "NP_733821.1:p.Gly232Glu" } } } }, { "@id": "http://reg.genome.network/allele/PA2826443007", "coordinates": [ { "allele": "A", "end": 393, "referenceAllele": "G", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001257374.3:c.359G>A" ], "proteinEffect": { "hgvs": "NP_001244303.1:p.Gly120Glu", "hgvsWellDefined": "NP_001244303.1:p.Gly120Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS680726" }, { "@id": "http://reg.genome.network/allele/PA2826660035", "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "G", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282626.2:c.695G>A" ], "proteinEffect": { "hgvs": "NP_001269555.1:p.Gly232Glu", "hgvsWellDefined": "NP_001269555.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS681840" }, { "@id": "http://reg.genome.network/allele/PA2826657513", "coordinates": [ { "allele": "A", "end": 573, "referenceAllele": "G", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282624.2:c.452G>A" ], "proteinEffect": { "hgvs": "NP_001269553.1:p.Gly151Glu", "hgvsWellDefined": "NP_001269553.1:p.Gly151Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS715878" }, { "@id": "http://reg.genome.network/allele/PA2826658776", "coordinates": [ { "allele": "A", "end": 1341, "referenceAllele": "G", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282625.2:c.695G>A" ], "proteinEffect": { "hgvs": "NP_001269554.1:p.Gly232Glu", "hgvsWellDefined": "NP_001269554.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS715879" }, { "@id": "http://reg.genome.network/allele/PA218407", "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "G", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_005572.4:c.695G>A" ], "proteinEffect": { "hgvs": "NP_005563.1:p.Gly232Glu", "hgvsWellDefined": "NP_005563.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS727649", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677389.1:c.695G>A" }, "RefSeq": { "hgvs": "NM_005572.4:c.695G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000503633.1:p.Gly232Glu" }, "RefSeq": { "hgvs": "NP_005563.1:p.Gly232Glu" } } } }, { "@id": "http://reg.genome.network/allele/PA218408", "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "G", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170708.4:c.695G>A" ], "proteinEffect": { "hgvs": "NP_733822.1:p.Gly232Glu", "hgvsWellDefined": "NP_733822.1:p.Gly232Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS729502" } ], "type": "nucleotide" }