{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA217158", "communityStandardTitle": [ "NM_002055.5(GFAP):c.221T>C (p.Met74Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77363[alleleid]", "alleleId": 77363, "preferredName": "NM_002055.5(GFAP):c.221T>C (p.Met74Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66466", "RCV": [ "RCV000056861", "RCV000192102" ], "variationId": 66466 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.42992634A>G?assembly=hg19", "id": "chr17:g.42992634A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.44915266A>G?assembly=hg38", "id": "chr17:g.44915266A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/267607504", "rs": 267607504 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 44915266, "referenceAllele": "A", "start": 44915265 } ], "hgvs": [ "NC_000017.11:g.44915266A>G", "CM000679.2:g.44915266A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 42992634, "referenceAllele": "A", "start": 42992633 } ], "hgvs": [ "NC_000017.10:g.42992634A>G", "CM000679.1:g.42992634A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 40348160, "referenceAllele": "A", "start": 40348159 } ], "hgvs": [ "NC_000017.9:g.40348160A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "C", "end": 5281, "referenceAllele": "T", "start": 5280 } ], "hgvs": [ "NG_008401.1:g.5281T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001080" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000253408.11:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000253408.5:p.Met74Thr", "hgvsWellDefined": "ENSP00000253408.5:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS823596" }, { "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000435360.8:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000403962.1:p.Met74Thr", "hgvsWellDefined": "ENSP00000403962.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS824873" }, { "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000253408.10:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000253408.5:p.Met74Thr", "hgvsWellDefined": "ENSP00000253408.5:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS741599" }, { "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000435360.7:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000403962.1:p.Met74Thr", "hgvsWellDefined": "ENSP00000403962.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS755556" }, { "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000586793.6:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000468500.2:p.Met74Thr", "hgvsWellDefined": "ENSP00000468500.2:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS761054" }, { "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000588735.3:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000466598.2:p.Met74Thr", "hgvsWellDefined": "ENSP00000466598.2:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS761134", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000588735.3:c.221T>C" }, "RefSeq": { "hgvs": "NM_002055.5:c.221T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000466598.2:p.Met74Thr" }, "RefSeq": { "hgvs": "NP_002046.1:p.Met74Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 234, "referenceAllele": "T", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000591327.2:n.234T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS761236" }, { "coordinates": [ { "allele": "C", "end": 239, "referenceAllele": "T", "start": 238 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000592320.6:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000465320.1:p.Met74Thr", "hgvsWellDefined": "ENSP00000465320.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS761278" }, { "coordinates": [ { "allele": "C", "end": 221, "referenceAllele": "T", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000638281.1:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000491088.1:p.Met74Thr", "hgvsWellDefined": "ENSP00000491088.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764448" }, { "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000639277.1:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000492432.1:p.Met74Thr", "hgvsWellDefined": "ENSP00000492432.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764950" }, { "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000640552.1:n.235T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS765549" }, { "coordinates": [ { "allele": "C", "end": 287, "referenceAllele": "T", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000253408.9:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000253408.4:p.Met74Thr", "hgvsWellDefined": "ENSP00000253408.4:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS249928" }, { "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000376990.8:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000366189.4:p.Met74Thr", "hgvsWellDefined": "ENSP00000366189.4:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS271406" }, { "coordinates": [ { "allele": "C", "end": 229, "referenceAllele": "T", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000435360.6:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000403962.1:p.Met74Thr", "hgvsWellDefined": "ENSP00000403962.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS293488" }, { "coordinates": [ { "allele": "C", "end": 195, "endIntronDirection": "+", "endIntronOffset": 40, "referenceAllele": "T", "start": 195, "startIntronDirection": "+", "startIntronOffset": 39 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000585728.5:c.181+40T>C" ], "proteinEffect": { "hgvs": "ENSP00000465208.1:n.181+40T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS388914" }, { "coordinates": [ { "allele": "C", "end": 229, "referenceAllele": "T", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000586793.5:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000468500.1:p.Met74Thr", "hgvsWellDefined": "ENSP00000468500.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS389642" }, { "coordinates": [ { "allele": "C", "end": 238, "referenceAllele": "T", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000588037.1:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000466163.1:p.Met74Thr", "hgvsWellDefined": "ENSP00000466163.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS390505" }, { "coordinates": [ { "allele": "C", "end": 223, "referenceAllele": "T", "start": 222 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000588316.1:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000465629.1:p.Met74Thr", "hgvsWellDefined": "ENSP00000465629.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS390693" }, { "coordinates": [ { "allele": "C", "end": 96, "endIntronDirection": "+", "endIntronOffset": 139, "referenceAllele": "T", "start": 96, "startIntronDirection": "+", "startIntronOffset": 138 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000588735.1:c.82+139T>C" ], "proteinEffect": { "hgvs": "ENSP00000466598.1:n.82+139T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS390990" }, { "coordinates": [ { "allele": "C", "end": 135, "endIntronDirection": "+", "endIntronOffset": 551, "referenceAllele": "T", "start": 135, "startIntronDirection": "+", "startIntronOffset": 550 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000588957.5:c.-272+551T>C" ], "proteinEffect": { "hgvs": "ENSP00000465565.1:n.-272+551T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS391148" }, { "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000591327.1:n.235T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS392802" }, { "coordinates": [ { "allele": "C", "end": 239, "referenceAllele": "T", "start": 238 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000592320.5:c.221T>C" ], "proteinEffect": { "hgvs": "ENSP00000465320.1:p.Met74Thr", "hgvsWellDefined": "ENSP00000465320.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS393482" }, { "@id": "http://reg.genome.network/allele/PA2825774336", "coordinates": [ { "allele": "C", "end": 287, "referenceAllele": "T", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001131019.2:c.221T>C" ], "proteinEffect": { "hgvs": "NP_001124491.1:p.Met74Thr", "hgvsWellDefined": "NP_001124491.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS012172" }, { "@id": "http://reg.genome.network/allele/PA2826297967", "coordinates": [ { "allele": "C", "end": 287, "referenceAllele": "T", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001242376.1:c.221T>C" ], "proteinEffect": { "hgvs": "NP_001229305.1:p.Met74Thr", "hgvsWellDefined": "NP_001229305.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS018095" }, { "@id": "http://reg.genome.network/allele/PA102866", "coordinates": [ { "allele": "C", "end": 287, "referenceAllele": "T", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_002055.4:c.221T>C" ], "proteinEffect": { "hgvs": "NP_002046.1:p.Met74Thr", "hgvsWellDefined": "NP_002046.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS027381" }, { "@id": "http://reg.genome.network/allele/PA2828120174", "coordinates": [ { "allele": "C", "end": 287, "referenceAllele": "T", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001363846.1:c.221T>C" ], "proteinEffect": { "hgvs": "NP_001350775.1:p.Met74Thr", "hgvsWellDefined": "NP_001350775.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS523597" }, { "coordinates": [ { "allele": "C", "end": 287, "referenceAllele": "T", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "XM_024450690.1:c.221T>C" ], "proteinEffect": { "hgvs": "XP_024306458.1:p.Met74Thr", "hgvsWellDefined": "XP_024306458.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS584222" }, { "coordinates": [ { "allele": "C", "end": 287, "referenceAllele": "T", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "XM_024450691.1:c.221T>C" ], "proteinEffect": { "hgvs": "XP_024306459.1:p.Met74Thr", "hgvsWellDefined": "XP_024306459.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS584223" }, { "coordinates": [ { "allele": "C", "end": 287, "referenceAllele": "T", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "XM_024450692.1:c.221T>C" ], "proteinEffect": { "hgvs": "XP_024306460.1:p.Met74Thr", "hgvsWellDefined": "XP_024306460.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS584224" }, { "coordinates": [ { "allele": "C", "end": 287, "referenceAllele": "T", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "XM_024450693.1:c.221T>C" ], "proteinEffect": { "hgvs": "XP_024306461.1:p.Met74Thr", "hgvsWellDefined": "XP_024306461.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS584225" }, { "@id": "http://reg.genome.network/allele/PA102866", "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_002055.5:c.221T>C" ], "proteinEffect": { "hgvs": "NP_002046.1:p.Met74Thr", "hgvsWellDefined": "NP_002046.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS665321", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000588735.3:c.221T>C" }, "RefSeq": { "hgvs": "NM_002055.5:c.221T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000466598.2:p.Met74Thr" }, "RefSeq": { "hgvs": "NP_002046.1:p.Met74Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2825774336", "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001131019.3:c.221T>C" ], "proteinEffect": { "hgvs": "NP_001124491.1:p.Met74Thr", "hgvsWellDefined": "NP_001124491.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS677194" }, { "@id": "http://reg.genome.network/allele/PA2826297967", "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001242376.2:c.221T>C" ], "proteinEffect": { "hgvs": "NP_001229305.1:p.Met74Thr", "hgvsWellDefined": "NP_001229305.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS680060" }, { "@id": "http://reg.genome.network/allele/PA2826297967", "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001242376.3:c.221T>C" ], "proteinEffect": { "hgvs": "NP_001229305.1:p.Met74Thr", "hgvsWellDefined": "NP_001229305.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS714309" }, { "@id": "http://reg.genome.network/allele/PA2828120174", "coordinates": [ { "allele": "C", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001363846.2:c.221T>C" ], "proteinEffect": { "hgvs": "NP_001350775.1:p.Met74Thr", "hgvsWellDefined": "NP_001350775.1:p.Met74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS720802" } ], "type": "nucleotide" }