{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA217197", "communityStandardTitle": [ "NM_002055.5(GFAP):c.613G>A (p.Glu205Lys)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=84396", "active": true, "id": "COSM84396" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77385[alleleid]", "alleleId": 77385, "preferredName": "NM_002055.5(GFAP):c.613G>A (p.Glu205Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66488", "RCV": [ "RCV000056889", "RCV000192127" ], "variationId": 66488 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.42991101C>T?assembly=hg19", "id": "chr17:g.42991101C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.44913733C>T?assembly=hg38", "id": "chr17:g.44913733C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/267607507", "rs": 267607507 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-44913733-C-T?dataset=gnomad_r4", "id": "17-44913733-C-T", "variant": "17:44913733 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 44913733, "referenceAllele": "C", "start": 44913732 } ], "hgvs": [ "NC_000017.11:g.44913733C>T", "CM000679.2:g.44913733C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 42991101, "referenceAllele": "C", "start": 42991100 } ], "hgvs": [ "NC_000017.10:g.42991101C>T", "CM000679.1:g.42991101C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 40346627, "referenceAllele": "C", "start": 40346626 } ], "hgvs": [ "NC_000017.9:g.40346627C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 6814, "referenceAllele": "G", "start": 6813 } ], "hgvs": [ "NG_008401.1:g.6814G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001080" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000253408.11:c.613G>A" ], "proteinEffect": { "hgvs": "ENSP00000253408.5:p.Glu205Lys", "hgvsWellDefined": "ENSP00000253408.5:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS823596" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000435360.8:c.613G>A" ], "proteinEffect": { "hgvs": "ENSP00000403962.1:p.Glu205Lys", "hgvsWellDefined": "ENSP00000403962.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS824873" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000253408.10:c.613G>A" ], "proteinEffect": { "hgvs": "ENSP00000253408.5:p.Glu205Lys", "hgvsWellDefined": "ENSP00000253408.5:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS741599" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000435360.7:c.613G>A" ], "proteinEffect": { "hgvs": "ENSP00000403962.1:p.Glu205Lys", "hgvsWellDefined": "ENSP00000403962.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS755556" }, { "coordinates": [ { "allele": "A", "end": 1142, "referenceAllele": "G", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000586127.6:n.1142G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS761022" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000586793.6:c.613G>A" ], "proteinEffect": { "hgvs": "ENSP00000468500.2:p.Glu205Lys", "hgvsWellDefined": "ENSP00000468500.2:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS761054" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000588735.3:c.613G>A" ], "proteinEffect": { "hgvs": "ENSP00000466598.2:p.Glu205Lys", "hgvsWellDefined": "ENSP00000466598.2:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS761134", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000588735.3:c.613G>A" }, "RefSeq": { "hgvs": "NM_002055.5:c.613G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000466598.2:p.Glu205Lys" }, "RefSeq": { "hgvs": "NP_002046.1:p.Glu205Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "G", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000591327.2:n.1767G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS761236" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "G", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000592320.6:c.613G>A" ], "proteinEffect": { "hgvs": "ENSP00000465320.1:p.Glu205Lys", "hgvsWellDefined": "ENSP00000465320.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS761278" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "G", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000638281.1:c.613G>A" ], "proteinEffect": { "hgvs": "ENSP00000491088.1:p.Glu205Lys", "hgvsWellDefined": "ENSP00000491088.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764448" }, { "coordinates": [ { "allele": "A", "end": 268, "referenceAllele": "G", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000638618.1:c.268G>A" ], "proteinEffect": { "hgvs": "ENSP00000492832.1:p.Glu90Lys", "hgvsWellDefined": "ENSP00000492832.1:p.Glu90Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764619" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000639277.1:c.613G>A" ], "proteinEffect": { "hgvs": "ENSP00000492432.1:p.Glu205Lys", "hgvsWellDefined": "ENSP00000492432.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764950" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000640552.1:n.627G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS765549" }, { "coordinates": [ { "allele": "A", "end": 679, "referenceAllele": "G", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000253408.9:c.613G>A" ], "proteinEffect": { "hgvs": "ENSP00000253408.4:p.Glu205Lys", "hgvsWellDefined": "ENSP00000253408.4:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS249928" }, { "coordinates": [ { "allele": "A", "end": 566, "referenceAllele": "G", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000376990.8:c.*12G>A" ], "proteinEffect": { "hgvs": "ENSP00000366189.4:n.*12G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS271406" }, { "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000435360.6:c.613G>A" ], "proteinEffect": { "hgvs": "ENSP00000403962.1:p.Glu205Lys", "hgvsWellDefined": "ENSP00000403962.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS293488" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000585728.5:c.*257G>A" ], "proteinEffect": { "hgvs": "ENSP00000465208.1:n.*257G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS388914" }, { "coordinates": [ { "allele": "A", "end": 440, "referenceAllele": "G", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000586127.5:c.-49G>A" ], "proteinEffect": { "hgvs": "ENSP00000464795.1:n.-49G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS389186" }, { "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000586793.5:c.613G>A" ], "proteinEffect": { "hgvs": "ENSP00000468500.1:p.Glu205Lys", "hgvsWellDefined": "ENSP00000468500.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS389642" }, { "coordinates": [ { "allele": "A", "end": 524, "endIntronDirection": "+", "endIntronOffset": 295, "referenceAllele": "G", "start": 524, "startIntronDirection": "+", "startIntronOffset": 294 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000588316.1:c.522+295G>A" ], "proteinEffect": { "hgvs": "ENSP00000465629.1:n.522+295G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS390693" }, { "coordinates": [ { "allele": "A", "end": 96, "endIntronDirection": "+", "endIntronOffset": 1672, "referenceAllele": "G", "start": 96, "startIntronDirection": "+", "startIntronOffset": 1671 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000588735.1:c.82+1672G>A" ], "proteinEffect": { "hgvs": "ENSP00000466598.1:n.82+1672G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS390990" }, { "coordinates": [ { "allele": "A", "end": 287, "referenceAllele": "G", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000588957.5:c.-120G>A" ], "proteinEffect": { "hgvs": "ENSP00000465565.1:n.-120G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS391148" }, { "coordinates": [ { "allele": "A", "end": 566, "referenceAllele": "G", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000591327.1:n.566G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS392802" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "G", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000592320.5:c.613G>A" ], "proteinEffect": { "hgvs": "ENSP00000465320.1:p.Glu205Lys", "hgvsWellDefined": "ENSP00000465320.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS393482" }, { "@id": "http://reg.genome.network/allele/PA2825774439", "coordinates": [ { "allele": "A", "end": 679, "referenceAllele": "G", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001131019.2:c.613G>A" ], "proteinEffect": { "hgvs": "NP_001124491.1:p.Glu205Lys", "hgvsWellDefined": "NP_001124491.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012172" }, { "@id": "http://reg.genome.network/allele/PA2826298069", "coordinates": [ { "allele": "A", "end": 679, "referenceAllele": "G", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001242376.1:c.613G>A" ], "proteinEffect": { "hgvs": "NP_001229305.1:p.Glu205Lys", "hgvsWellDefined": "NP_001229305.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS018095" }, { "@id": "http://reg.genome.network/allele/PA217198", "coordinates": [ { "allele": "A", "end": 679, "referenceAllele": "G", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_002055.4:c.613G>A" ], "proteinEffect": { "hgvs": "NP_002046.1:p.Glu205Lys", "hgvsWellDefined": "NP_002046.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS027381" }, { "@id": "http://reg.genome.network/allele/PA2828120276", "coordinates": [ { "allele": "A", "end": 679, "referenceAllele": "G", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001363846.1:c.613G>A" ], "proteinEffect": { "hgvs": "NP_001350775.1:p.Glu205Lys", "hgvsWellDefined": "NP_001350775.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS523597" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "XM_024450690.1:c.817G>A" ], "proteinEffect": { "hgvs": "XP_024306458.1:p.Glu273Lys", "hgvsWellDefined": "XP_024306458.1:p.Glu273Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS584222" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "XM_024450691.1:c.817G>A" ], "proteinEffect": { "hgvs": "XP_024306459.1:p.Glu273Lys", "hgvsWellDefined": "XP_024306459.1:p.Glu273Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS584223" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "XM_024450692.1:c.817G>A" ], "proteinEffect": { "hgvs": "XP_024306460.1:p.Glu273Lys", "hgvsWellDefined": "XP_024306460.1:p.Glu273Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS584224" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "XM_024450693.1:c.817G>A" ], "proteinEffect": { "hgvs": "XP_024306461.1:p.Glu273Lys", "hgvsWellDefined": "XP_024306461.1:p.Glu273Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS584225" }, { "@id": "http://reg.genome.network/allele/PA217198", "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_002055.5:c.613G>A" ], "proteinEffect": { "hgvs": "NP_002046.1:p.Glu205Lys", "hgvsWellDefined": "NP_002046.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS665321", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000588735.3:c.613G>A" }, "RefSeq": { "hgvs": "NM_002055.5:c.613G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000466598.2:p.Glu205Lys" }, "RefSeq": { "hgvs": "NP_002046.1:p.Glu205Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2825774439", "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001131019.3:c.613G>A" ], "proteinEffect": { "hgvs": "NP_001124491.1:p.Glu205Lys", "hgvsWellDefined": "NP_001124491.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677194" }, { "@id": "http://reg.genome.network/allele/PA2826298069", "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001242376.2:c.613G>A" ], "proteinEffect": { "hgvs": "NP_001229305.1:p.Glu205Lys", "hgvsWellDefined": "NP_001229305.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS680060" }, { "@id": "http://reg.genome.network/allele/PA2826298069", "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001242376.3:c.613G>A" ], "proteinEffect": { "hgvs": "NP_001229305.1:p.Glu205Lys", "hgvsWellDefined": "NP_001229305.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS714309" }, { "@id": "http://reg.genome.network/allele/PA2828120276", "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001363846.2:c.613G>A" ], "proteinEffect": { "hgvs": "NP_001350775.1:p.Glu205Lys", "hgvsWellDefined": "NP_001350775.1:p.Glu205Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS720802" } ], "type": "nucleotide" }