{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5667979", "communityStandardTitle": [ "NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=426992", "active": true, "id": "COSM426992" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=612009[alleleid]", "alleleId": 612009, "preferredName": "NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/620602", "RCV": [ "RCV000761042", "RCV001855935", "RCV003461019", "RCV004027177" ], "variationId": 620602 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-104386944-G-A", "id": "10-104386944-G-A", "variant": "10:104386944 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.104386944G>A?assembly=hg19", "id": "chr10:g.104386944G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.102627187G>A?assembly=hg38", "id": "chr10:g.102627187G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/766370528", "rs": 766370528 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-104386944-G-A?dataset=gnomad_r2_1", "id": "10-104386944-G-A", "variant": "10:104386944 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-102627187-G-A?dataset=gnomad_r3", "id": "10-102627187-G-A", "variant": "10:102627187 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-102627187-G-A?dataset=gnomad_r4", "id": "10-102627187-G-A", "variant": "10:102627187 G / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 102627187, "referenceAllele": "G", "start": 102627186 } ], "hgvs": [ "NC_000010.11:g.102627187G>A", "CM000672.2:g.102627187G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 104386944, "referenceAllele": "G", "start": 104386943 } ], "hgvs": [ "NC_000010.10:g.104386944G>A", "CM000672.1:g.104386944G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 104376934, "referenceAllele": "G", "start": 104376933 } ], "hgvs": [ "NC_000010.9:g.104376934G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 128226, "referenceAllele": "G", "start": 128225 } ], "hgvs": [ "NG_021338.1:g.128226G>A", "LRG_521:g.128226G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003579" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1490, "referenceAllele": "G", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "ENST00000369902.8:c.1309G>A" ], "proteinEffect": { "hgvs": "ENSP00000358918.4:p.Glu437Lys", "hgvsWellDefined": "ENSP00000358918.4:p.Glu437Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS750502", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369902.8:c.1309G>A" }, "RefSeq": { "hgvs": "NM_016169.4:c.1309G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358918.4:p.Glu437Lys" }, "RefSeq": { "hgvs": "NP_057253.2:p.Glu437Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1475, "referenceAllele": "G", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "ENST00000369902.7:c.1309G>A" ], "proteinEffect": { "hgvs": "ENSP00000358918.3:p.Glu437Lys", "hgvsWellDefined": "ENSP00000358918.3:p.Glu437Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS267763" }, { "@id": "http://reg.genome.network/allele/PA913196137", "coordinates": [ { "allele": "A", "end": 1500, "referenceAllele": "G", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "NM_016169.3:c.1309G>A", "LRG_521t1:c.1309G>A" ], "proteinEffect": { "hgvs": "NP_057253.2:p.Glu437Lys", "hgvsWellDefined": "NP_057253.2:p.Glu437Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS034493" }, { "coordinates": [ { "allele": "A", "end": 1629, "referenceAllele": "G", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539858.1:c.1438G>A" ], "proteinEffect": { "hgvs": "XP_011538160.1:p.Glu480Lys", "hgvsWellDefined": "XP_011538160.1:p.Glu480Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106808" }, { "coordinates": [ { "allele": "A", "end": 1554, "referenceAllele": "G", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539859.1:c.1438G>A" ], "proteinEffect": { "hgvs": "XP_011538161.1:p.Glu480Lys", "hgvsWellDefined": "XP_011538161.1:p.Glu480Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106809" }, { "coordinates": [ { "allele": "A", "end": 1626, "referenceAllele": "G", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539860.1:c.1435G>A" ], "proteinEffect": { "hgvs": "XP_011538162.1:p.Glu479Lys", "hgvsWellDefined": "XP_011538162.1:p.Glu479Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106810" }, { "coordinates": [ { "allele": "A", "end": 1339, "referenceAllele": "G", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539861.1:c.1312G>A" ], "proteinEffect": { "hgvs": "XP_011538163.1:p.Glu438Lys", "hgvsWellDefined": "XP_011538163.1:p.Glu438Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106811" }, { "coordinates": [ { "allele": "A", "end": 1483, "referenceAllele": "G", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539862.1:c.1360G>A" ], "proteinEffect": { "hgvs": "XP_011538164.1:p.Glu454Lys", "hgvsWellDefined": "XP_011538164.1:p.Glu454Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106812" }, { "coordinates": [ { "allele": "A", "end": 1369, "referenceAllele": "G", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539863.1:c.1264G>A" ], "proteinEffect": { "hgvs": "XP_011538165.1:p.Glu422Lys", "hgvsWellDefined": "XP_011538165.1:p.Glu422Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106813" }, { "coordinates": [ { "allele": "A", "end": 1619, "referenceAllele": "G", "start": 1618 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539858.3:c.1438G>A" ], "proteinEffect": { "hgvs": "XP_011538160.1:p.Glu480Lys", "hgvsWellDefined": "XP_011538160.1:p.Glu480Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553830" }, { "coordinates": [ { "allele": "A", "end": 1616, "referenceAllele": "G", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539860.3:c.1435G>A" ], "proteinEffect": { "hgvs": "XP_011538162.1:p.Glu479Lys", "hgvsWellDefined": "XP_011538162.1:p.Glu479Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553831" }, { "coordinates": [ { "allele": "A", "end": 1493, "referenceAllele": "G", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539861.3:c.1312G>A" ], "proteinEffect": { "hgvs": "XP_011538163.1:p.Glu438Lys", "hgvsWellDefined": "XP_011538163.1:p.Glu438Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553832" }, { "coordinates": [ { "allele": "A", "end": 1442, "referenceAllele": "G", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_011539863.3:c.1264G>A" ], "proteinEffect": { "hgvs": "XP_011538165.1:p.Glu422Lys", "hgvsWellDefined": "XP_011538165.1:p.Glu422Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553833" }, { "coordinates": [ { "allele": "A", "end": 1859, "referenceAllele": "G", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "XM_017016323.1:c.1360G>A" ], "proteinEffect": { "hgvs": "XP_016871812.1:p.Glu454Lys", "hgvsWellDefined": "XP_016871812.1:p.Glu454Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS568792" }, { "@id": "http://reg.genome.network/allele/PA913196137", "coordinates": [ { "allele": "A", "end": 1490, "referenceAllele": "G", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN016466", "geneNCBI_id": 51684, "geneSymbol": "SUFU", "hgvs": [ "NM_016169.4:c.1309G>A" ], "proteinEffect": { "hgvs": "NP_057253.2:p.Glu437Lys", "hgvsWellDefined": "NP_057253.2:p.Glu437Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS697677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369902.8:c.1309G>A" }, "RefSeq": { "hgvs": "NM_016169.4:c.1309G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358918.4:p.Glu437Lys" }, "RefSeq": { "hgvs": "NP_057253.2:p.Glu437Lys" } } } } ], "type": "nucleotide" }