{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA003201", "communityStandardTitle": [ "NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM4066737" }, { "active": false, "id": "COSM4066738" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46188[alleleid]", "alleleId": 46188, "preferredName": "NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37632", "RCV": [ "RCV000031213", "RCV000217586", "RCV000255870", "RCV000496924", "RCV003332088" ], "variationId": 37632 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41219625C>T?assembly=hg19", "id": "chr17:g.41219625C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.43067608C>T?assembly=hg38", "id": "chr17:g.43067608C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/80187739", "rs": 80187739 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 43067608, "referenceAllele": "C", "start": 43067607 } ], "hgvs": [ "NC_000017.11:g.43067608C>T", "CM000679.2:g.43067608C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 41219625, "referenceAllele": "C", "start": 41219624 } ], "hgvs": [ "NC_000017.10:g.41219625C>T", "CM000679.1:g.41219625C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 38473151, "referenceAllele": "C", "start": 38473150 } ], "hgvs": [ "NC_000017.9:g.38473151C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 150376, "referenceAllele": "G", "start": 150375 } ], "hgvs": [ "NG_005905.2:g.150376G>A", "LRG_292:g.150376G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000438" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5190, "referenceAllele": "G", "start": 5189 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461574.2:c.5071G>A" ], "proteinEffect": { "hgvs": "ENSP00000417241.2:p.Asp1691Asn", "hgvsWellDefined": "ENSP00000417241.2:p.Asp1691Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914104" }, { "coordinates": [ { "allele": "A", "end": 5255, "referenceAllele": "G", "start": 5254 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000470026.6:c.5074G>A" ], "proteinEffect": { "hgvs": "ENSP00000419274.2:p.Asp1692Asn", "hgvsWellDefined": "ENSP00000419274.2:p.Asp1692Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914115" }, { "coordinates": [ { "allele": "A", "end": 5061, "referenceAllele": "G", "start": 5060 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000473961.6:c.4948G>A" ], "proteinEffect": { "hgvs": "ENSP00000420201.2:p.Asp1650Asn", "hgvsWellDefined": "ENSP00000420201.2:p.Asp1650Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914123" }, { "coordinates": [ { "allele": "A", "end": 5177, "referenceAllele": "G", "start": 5176 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000476777.6:c.5068G>A" ], "proteinEffect": { "hgvs": "ENSP00000417554.2:p.Asp1690Asn", "hgvsWellDefined": "ENSP00000417554.2:p.Asp1690Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914128" }, { "coordinates": [ { "allele": "A", "end": 5109, "referenceAllele": "G", "start": 5108 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000477152.6:c.4996G>A" ], "proteinEffect": { "hgvs": "ENSP00000419988.2:p.Asp1666Asn", "hgvsWellDefined": "ENSP00000419988.2:p.Asp1666Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914130" }, { "coordinates": [ { "allele": "A", "end": 1864, "referenceAllele": "G", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000478531.6:c.1762G>A" ], "proteinEffect": { "hgvs": "ENSP00000420412.2:p.Asp588Asn", "hgvsWellDefined": "ENSP00000420412.2:p.Asp588Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914132" }, { "coordinates": [ { "allele": "A", "end": 5155, "referenceAllele": "G", "start": 5154 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000489037.2:c.4996G>A" ], "proteinEffect": { "hgvs": "ENSP00000420781.2:p.Asp1666Asn", "hgvsWellDefined": "ENSP00000420781.2:p.Asp1666Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914157" }, { "coordinates": [ { "allele": "A", "end": 1856, "referenceAllele": "G", "start": 1855 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493919.6:c.1624G>A" ], "proteinEffect": { "hgvs": "ENSP00000418819.2:p.Asp542Asn", "hgvsWellDefined": "ENSP00000418819.2:p.Asp542Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914168" }, { "coordinates": [ { "allele": "A", "end": 5267, "referenceAllele": "G", "start": 5266 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000494123.6:c.5074G>A" ], "proteinEffect": { "hgvs": "ENSP00000419103.2:p.Asp1692Asn", "hgvsWellDefined": "ENSP00000419103.2:p.Asp1692Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914169" }, { "coordinates": [ { "allele": "A", "end": 4434, "referenceAllele": "G", "start": 4433 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000497488.2:c.4186G>A" ], "proteinEffect": { "hgvs": "ENSP00000418986.2:p.Asp1396Asn", "hgvsWellDefined": "ENSP00000418986.2:p.Asp1396Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914174" }, { "coordinates": [ { "allele": "A", "end": 5721, "referenceAllele": "G", "start": 5720 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000618469.2:c.5074G>A" ], "proteinEffect": { "hgvs": "ENSP00000478114.2:p.Asp1692Asn", "hgvsWellDefined": "ENSP00000478114.2:p.Asp1692Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914368" }, { "coordinates": [ { "allele": "A", "end": 5090, "referenceAllele": "G", "start": 5089 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000634433.2:c.4951G>A" ], "proteinEffect": { "hgvs": "ENSP00000489431.2:p.Asp1651Asn", "hgvsWellDefined": "ENSP00000489431.2:p.Asp1651Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914383" }, { "coordinates": [ { "allele": "A", "end": 5253, "referenceAllele": "G", "start": 5252 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644379.2:c.5140G>A" ], "proteinEffect": { "hgvs": "ENSP00000496570.2:p.Asp1714Asn", "hgvsWellDefined": "ENSP00000496570.2:p.Asp1714Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914413" }, { "coordinates": [ { "allele": "A", "end": 2029, "referenceAllele": "G", "start": 2028 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644555.2:c.1624G>A" ], "proteinEffect": { "hgvs": "ENSP00000494614.2:p.Asp542Asn", "hgvsWellDefined": "ENSP00000494614.2:p.Asp542Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914415" }, { "coordinates": [ { "allele": "A", "end": 5419, "referenceAllele": "G", "start": 5418 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000652672.2:c.4933G>A" ], "proteinEffect": { "hgvs": "ENSP00000498906.2:p.Asp1645Asn", "hgvsWellDefined": "ENSP00000498906.2:p.Asp1645Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914437" }, { "coordinates": [ { "allele": "A", "end": 1728, "referenceAllele": "G", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000484087.6:c.1636G>A" ], "proteinEffect": { "hgvs": "ENSP00000419481.2:p.Asp546Asn", "hgvsWellDefined": "ENSP00000419481.2:p.Asp546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS905314" }, { "coordinates": [ { "allele": "A", "end": 5187, "referenceAllele": "G", "start": 5186 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.9:c.5074G>A" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Asp1692Asn", "hgvsWellDefined": "ENSP00000350283.3:p.Asp1692Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS748973", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.5074G>A" }, "RefSeq": { "hgvs": "NM_007294.4:c.5074G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Asp1692Asn" }, "RefSeq": { "hgvs": "NP_009225.1:p.Asp1692Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 5369, "referenceAllele": "G", "start": 5368 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.7:c.5137G>A" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Asp1713Asn", "hgvsWellDefined": "ENSP00000418960.2:p.Asp1713Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS757017" }, { "coordinates": [ { "allele": "A", "end": 1461, "referenceAllele": "G", "start": 1460 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644379.1:c.1461G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767790" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "G", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000352993.7:c.1648G>A" ], "proteinEffect": { "hgvs": "ENSP00000312236.5:p.Asp550Asn", "hgvsWellDefined": "ENSP00000312236.5:p.Asp550Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247155" }, { "coordinates": [ { "allele": "A", "end": 5193, "referenceAllele": "G", "start": 5192 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.7:c.5074G>A" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Asp1692Asn", "hgvsWellDefined": "ENSP00000350283.3:p.Asp1692Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS246738" }, { "coordinates": [ { "allele": "A", "end": 5175, "referenceAllele": "G", "start": 5174 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461221.5:c.*4857G>A" ], "proteinEffect": { "hgvs": "ENSP00000418548.1:n.*4857G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS305785" }, { "coordinates": [ { "allele": "A", "end": 1956, "referenceAllele": "G", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000468300.5:c.1762G>A" ], "proteinEffect": { "hgvs": "ENSP00000417148.1:p.Asp588Asn", "hgvsWellDefined": "ENSP00000417148.1:p.Asp588Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247345" }, { "coordinates": [ { "allele": "A", "end": 5369, "referenceAllele": "G", "start": 5368 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.6:c.5137G>A" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Asp1713Asn", "hgvsWellDefined": "ENSP00000418960.2:p.Asp1713Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247116" }, { "coordinates": [ { "allele": "A", "end": 227, "referenceAllele": "G", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000472490.1:n.227G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS314445" }, { "coordinates": [ { "allele": "A", "end": 1864, "referenceAllele": "G", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000478531.5:c.1762G>A" ], "proteinEffect": { "hgvs": "ENSP00000420412.1:p.Asp588Asn", "hgvsWellDefined": "ENSP00000420412.1:p.Asp588Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247368" }, { "coordinates": [ { "allele": "A", "end": 1387, "referenceAllele": "G", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000484087.5:c.1387G>A" ], "proteinEffect": { "hgvs": "ENSP00000419481.1:p.Asp463Asn", "hgvsWellDefined": "ENSP00000419481.1:p.Asp463Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247305" }, { "coordinates": [ { "allele": "A", "end": 1861, "referenceAllele": "G", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000491747.6:c.1762G>A" ], "proteinEffect": { "hgvs": "ENSP00000420705.2:p.Asp588Asn", "hgvsWellDefined": "ENSP00000420705.2:p.Asp588Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247351" }, { "coordinates": [ { "allele": "A", "end": 5165, "referenceAllele": "G", "start": 5164 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493795.5:c.4933G>A" ], "proteinEffect": { "hgvs": "ENSP00000418775.1:p.Asp1645Asn", "hgvsWellDefined": "ENSP00000418775.1:p.Asp1645Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247204" }, { "coordinates": [ { "allele": "A", "end": 1856, "referenceAllele": "G", "start": 1855 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493919.5:c.1624G>A" ], "proteinEffect": { "hgvs": "ENSP00000418819.1:p.Asp542Asn", "hgvsWellDefined": "ENSP00000418819.1:p.Asp542Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247288" }, { "coordinates": [ { "allele": "A", "end": 148, "endIntronDirection": "-", "endIntronOffset": 3656, "referenceAllele": "G", "start": 148, "startIntronDirection": "-", "startIntronOffset": 3657 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000586385.5:c.5-3657G>A" ], "proteinEffect": { "hgvs": "ENSP00000465818.1:n.5-3657G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247162" }, { "coordinates": [ { "allele": "A", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591534.5:c.547G>A" ], "proteinEffect": { "hgvs": "ENSP00000467329.1:p.Asp183Asn", "hgvsWellDefined": "ENSP00000467329.1:p.Asp183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247210" }, { "coordinates": [ { "allele": "A", "end": 59, "endIntronDirection": "-", "endIntronOffset": 17417, "referenceAllele": "G", "start": 59, "startIntronDirection": "-", "startIntronOffset": 17418 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591849.5:c.-98-17418G>A" ], "proteinEffect": { "hgvs": "ENSP00000465347.1:n.-98-17418G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS246631" }, { "@id": "http://reg.genome.network/allele/PA260716", "coordinates": [ { "allele": "A", "end": 5306, "referenceAllele": "G", "start": 5305 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.3:c.5074G>A", "LRG_292t1:c.5074G>A" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Asp1692Asn", "hgvsWellDefined": "NP_009225.1:p.Asp1692Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS032212" }, { "@id": "http://reg.genome.network/allele/PA2829696511", "coordinates": [ { "allele": "A", "end": 5214, "referenceAllele": "G", "start": 5213 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.3:c.4933G>A" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Asp1645Asn", "hgvsWellDefined": "NP_009228.2:p.Asp1645Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS032213" }, { "@id": "http://reg.genome.network/allele/PA2829701003", "coordinates": [ { "allele": "A", "end": 1781, "referenceAllele": "G", "start": 1780 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007298.3:c.1762G>A" ], "proteinEffect": { "hgvs": "NP_009229.2:p.Asp588Asn", "hgvsWellDefined": "NP_009229.2:p.Asp588Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS032214" }, { "@id": "http://reg.genome.network/allele/PA915993959", "coordinates": [ { "allele": "A", "end": 1956, "referenceAllele": "G", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.3:c.1762G>A" ], "proteinEffect": { "hgvs": "NP_009230.2:p.Asp588Asn", "hgvsWellDefined": "NP_009230.2:p.Asp588Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS032215" }, { "@id": "http://reg.genome.network/allele/PA2829708328", "coordinates": [ { "allele": "A", "end": 5369, "referenceAllele": "G", "start": 5368 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.3:c.5137G>A" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Asp1713Asn", "hgvsWellDefined": "NP_009231.2:p.Asp1713Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS032216" }, { "coordinates": [ { "allele": "A", "end": 5210, "referenceAllele": "G", "start": 5209 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.1:n.5210G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS047824" }, { "@id": "http://reg.genome.network/allele/PA260716", "coordinates": [ { "allele": "A", "end": 5187, "referenceAllele": "G", "start": 5186 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.4:c.5074G>A" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Asp1692Asn", "hgvsWellDefined": "NP_009225.1:p.Asp1692Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS696962", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.5074G>A" }, "RefSeq": { "hgvs": "NM_007294.4:c.5074G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Asp1692Asn" }, "RefSeq": { "hgvs": "NP_009225.1:p.Asp1692Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2829696511", "coordinates": [ { "allele": "A", "end": 5127, "referenceAllele": "G", "start": 5126 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.4:c.4933G>A" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Asp1645Asn", "hgvsWellDefined": "NP_009228.2:p.Asp1645Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS696963" }, { "@id": "http://reg.genome.network/allele/PA915993959", "coordinates": [ { "allele": "A", "end": 1869, "referenceAllele": "G", "start": 1868 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.4:c.1762G>A" ], "proteinEffect": { "hgvs": "NP_009230.2:p.Asp588Asn", "hgvsWellDefined": "NP_009230.2:p.Asp588Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS696964" }, { "@id": "http://reg.genome.network/allele/PA2829708328", "coordinates": [ { "allele": "A", "end": 5250, "referenceAllele": "G", "start": 5249 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.4:c.5137G>A" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Asp1713Asn", "hgvsWellDefined": "NP_009231.2:p.Asp1713Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS696965" }, { "coordinates": [ { "allele": "A", "end": 5251, "referenceAllele": "G", "start": 5250 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.2:n.5251G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS701973" } ], "type": "nucleotide" }