{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA398999876", "communityStandardTitle": [ "NM_001042492.3(NF1):c.4558C>G (p.Gln1520Glu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.29587514C>G?assembly=hg19", "id": "chr17:g.29587514C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.31260496C>G?assembly=hg38", "id": "chr17:g.31260496C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500242", "rs": 1060500242 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 31260496, "referenceAllele": "C", "start": 31260495 } ], "hgvs": [ "NC_000017.11:g.31260496C>G", "CM000679.2:g.31260496C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 29587514, "referenceAllele": "C", "start": 29587513 } ], "hgvs": [ "NC_000017.10:g.29587514C>G", "CM000679.1:g.29587514C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 26611640, "referenceAllele": "C", "start": 26611639 } ], "hgvs": [ "NC_000017.9:g.26611640C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "G", "end": 170520, "referenceAllele": "C", "start": 170519 } ], "hgvs": [ "NG_009018.1:g.170520C>G", "LRG_214:g.170520C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001383" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 346, "referenceAllele": "C", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000581113.7:c.346C>G" ], "proteinEffect": { "hgvs": "ENSP00000492721.2:p.Gln116Glu", "hgvsWellDefined": "ENSP00000492721.2:p.Gln116Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS906032" }, { "coordinates": [ { "allele": "G", "end": 4923, "referenceAllele": "C", "start": 4922 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000696138.1:c.4540C>G" ], "proteinEffect": { "hgvs": "ENSP00000512431.1:p.Gln1514Glu", "hgvsWellDefined": "ENSP00000512431.1:p.Gln1514Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS907613" }, { "coordinates": [ { "allele": "G", "end": 664, "referenceAllele": "C", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000696140.1:n.664C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS907615" }, { "coordinates": [ { "allele": "G", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000696141.1:c.549C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS907616" }, { "coordinates": [ { "allele": "G", "end": 1203, "referenceAllele": "C", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000687863.1:n.1203C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831300" }, { "coordinates": [ { "allele": "G", "end": 4921, "referenceAllele": "C", "start": 4920 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000691014.1:c.4588C>G" ], "proteinEffect": { "hgvs": "ENSP00000510595.1:p.Gln1530Glu", "hgvsWellDefined": "ENSP00000510595.1:p.Gln1530Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS832991" }, { "coordinates": [ { "allele": "G", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000691649.1:n.1769C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS833313" }, { "coordinates": [ { "allele": "G", "end": 4891, "referenceAllele": "C", "start": 4890 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000358273.9:c.4558C>G" ], "proteinEffect": { "hgvs": "ENSP00000351015.4:p.Gln1520Glu", "hgvsWellDefined": "ENSP00000351015.4:p.Gln1520Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS749046", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358273.9:c.4558C>G" }, "RefSeq": { "hgvs": "NM_001042492.3:c.4558C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351015.4:p.Gln1520Glu" }, "RefSeq": { "hgvs": "NP_001035957.1:p.Gln1520Glu" } } } }, { "coordinates": [ { "allele": "G", "end": 4878, "referenceAllele": "C", "start": 4877 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000356175.7:c.4495C>G" ], "proteinEffect": { "hgvs": "ENSP00000348498.3:p.Gln1499Glu", "hgvsWellDefined": "ENSP00000348498.3:p.Gln1499Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS263674" }, { "coordinates": [ { "allele": "G", "end": 4941, "referenceAllele": "C", "start": 4940 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000358273.8:c.4558C>G" ], "proteinEffect": { "hgvs": "ENSP00000351015.4:p.Gln1520Glu", "hgvsWellDefined": "ENSP00000351015.4:p.Gln1520Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS264392" }, { "coordinates": [ { "allele": "G", "end": 3493, "referenceAllele": "C", "start": 3492 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000456735.6:c.3493C>G" ], "proteinEffect": { "hgvs": "ENSP00000389907.2:p.Gln1165Glu", "hgvsWellDefined": "ENSP00000389907.2:p.Gln1165Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS303624" }, { "coordinates": [ { "allele": "G", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000466819.5:c.1074C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS310084" }, { "coordinates": [ { "allele": "G", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000479614.1:c.1011C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS319948" }, { "coordinates": [ { "allele": "G", "end": 3031, "referenceAllele": "C", "start": 3030 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000493220.5:n.3031C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS330416" }, { "coordinates": [ { "allele": "G", "end": 4597, "referenceAllele": "C", "start": 4596 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000579081.5:c.4597C>G" ], "proteinEffect": { "hgvs": "ENSP00000462408.1:p.Gln1533Glu", "hgvsWellDefined": "ENSP00000462408.1:p.Gln1533Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS385673" }, { "coordinates": [ { "allele": "G", "end": 4878, "referenceAllele": "C", "start": 4877 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_000267.3:c.4495C>G", "LRG_214t1:c.4495C>G" ], "proteinEffect": { "hgvs": "NP_000258.1:p.Gln1499Glu", "hgvsWellDefined": "NP_000258.1:p.Gln1499Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006329" }, { "@id": "http://reg.genome.network/allele/PA3084559166", "coordinates": [ { "allele": "G", "end": 4941, "referenceAllele": "C", "start": 4940 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_001042492.2:c.4558C>G", "LRG_214t2:c.4558C>G" ], "proteinEffect": { "hgvs": "NP_001035957.1:p.Gln1520Glu", "hgvsWellDefined": "NP_001035957.1:p.Gln1520Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS009721" }, { "coordinates": [ { "allele": "G", "end": 4891, "referenceAllele": "C", "start": 4890 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_005257983.1:c.4558C>G" ], "proteinEffect": { "hgvs": "XP_005258040.1:p.Gln1520Glu", "hgvsWellDefined": "XP_005258040.1:p.Gln1520Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS061916" }, { "coordinates": [ { "allele": "G", "end": 4828, "referenceAllele": "C", "start": 4827 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_005257984.1:c.4495C>G" ], "proteinEffect": { "hgvs": "XP_005258041.1:p.Gln1499Glu", "hgvsWellDefined": "XP_005258041.1:p.Gln1499Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS061917" }, { "coordinates": [ { "allele": "G", "end": 4921, "referenceAllele": "C", "start": 4920 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721922.1:c.4588C>G" ], "proteinEffect": { "hgvs": "XP_006721985.1:p.Gln1530Glu", "hgvsWellDefined": "XP_006721985.1:p.Gln1530Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074318" }, { "coordinates": [ { "allele": "G", "end": 5188, "referenceAllele": "C", "start": 5187 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721923.2:c.4549C>G" ], "proteinEffect": { "hgvs": "XP_006721986.1:p.Gln1517Glu", "hgvsWellDefined": "XP_006721986.1:p.Gln1517Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074319" }, { "coordinates": [ { "allele": "G", "end": 4921, "referenceAllele": "C", "start": 4920 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721924.1:c.4588C>G" ], "proteinEffect": { "hgvs": "XP_006721987.1:p.Gln1530Glu", "hgvsWellDefined": "XP_006721987.1:p.Gln1530Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074320" }, { "coordinates": [ { "allele": "G", "end": 4858, "referenceAllele": "C", "start": 4857 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721925.1:c.4525C>G" ], "proteinEffect": { "hgvs": "XP_006721988.1:p.Gln1509Glu", "hgvsWellDefined": "XP_006721988.1:p.Gln1509Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074321" }, { "coordinates": [ { "allele": "G", "end": 4921, "referenceAllele": "C", "start": 4920 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721926.2:c.4588C>G" ], "proteinEffect": { "hgvs": "XP_006721989.1:p.Gln1530Glu", "hgvsWellDefined": "XP_006721989.1:p.Gln1530Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074322" }, { "coordinates": [ { "allele": "G", "end": 4921, "referenceAllele": "C", "start": 4920 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721927.1:c.4588C>G" ], "proteinEffect": { "hgvs": "XP_006721990.1:p.Gln1530Glu", "hgvsWellDefined": "XP_006721990.1:p.Gln1530Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074323" }, { "coordinates": [ { "allele": "G", "end": 4921, "referenceAllele": "C", "start": 4920 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721928.2:c.4588C>G" ], "proteinEffect": { "hgvs": "XP_006721991.1:p.Gln1530Glu", "hgvsWellDefined": "XP_006721991.1:p.Gln1530Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS074324" }, { "coordinates": [ { "allele": "G", "end": 4918, "referenceAllele": "C", "start": 4917 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524852.1:c.4585C>G" ], "proteinEffect": { "hgvs": "XP_011523154.1:p.Gln1529Glu", "hgvsWellDefined": "XP_011523154.1:p.Gln1529Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS091972" }, { "coordinates": [ { "allele": "G", "end": 6379, "referenceAllele": "C", "start": 6378 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524853.1:c.4549C>G" ], "proteinEffect": { "hgvs": "XP_011523155.1:p.Gln1517Glu", "hgvsWellDefined": "XP_011523155.1:p.Gln1517Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS091973" }, { "coordinates": [ { "allele": "G", "end": 5414, "referenceAllele": "C", "start": 5413 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524854.1:c.4549C>G" ], "proteinEffect": { "hgvs": "XP_011523156.1:p.Gln1517Glu", "hgvsWellDefined": "XP_011523156.1:p.Gln1517Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS091974" }, { "coordinates": [ { "allele": "G", "end": 5446, "referenceAllele": "C", "start": 5445 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524855.1:c.4549C>G" ], "proteinEffect": { "hgvs": "XP_011523157.1:p.Gln1517Glu", "hgvsWellDefined": "XP_011523157.1:p.Gln1517Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS091975" }, { "coordinates": [ { "allele": "G", "end": 6124, "referenceAllele": "C", "start": 6123 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524856.1:c.4549C>G" ], "proteinEffect": { "hgvs": "XP_011523158.1:p.Gln1517Glu", "hgvsWellDefined": "XP_011523158.1:p.Gln1517Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS091976" }, { "coordinates": [ { "allele": "G", "end": 4921, "referenceAllele": "C", "start": 4920 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524857.1:c.4588C>G" ], "proteinEffect": { "hgvs": "XP_011523159.1:p.Gln1530Glu", "hgvsWellDefined": "XP_011523159.1:p.Gln1530Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS091977" }, { "@id": "http://reg.genome.network/allele/PA3084559166", "coordinates": [ { "allele": "G", "end": 4891, "referenceAllele": "C", "start": 4890 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_001042492.3:c.4558C>G" ], "proteinEffect": { "hgvs": "NP_001035957.1:p.Gln1520Glu", "hgvsWellDefined": "NP_001035957.1:p.Gln1520Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS676037", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358273.9:c.4558C>G" }, "RefSeq": { "hgvs": "NM_001042492.3:c.4558C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351015.4:p.Gln1520Glu" }, "RefSeq": { "hgvs": "NP_001035957.1:p.Gln1520Glu" } } } } ], "type": "nucleotide" }