{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA399843761", "communityStandardTitle": [ "NM_002055.5(GFAP):c.1046A>T (p.Tyr349Phe)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.42988685T>A?assembly=hg19", "id": "chr17:g.42988685T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.44911317T>A?assembly=hg38", "id": "chr17:g.44911317T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518828", "rs": 1057518828 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-44911317-T-A?dataset=gnomad_r4", "id": "17-44911317-T-A", "variant": "17:44911317 T / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 44911317, "referenceAllele": "T", "start": 44911316 } ], "hgvs": [ "NC_000017.11:g.44911317T>A", "CM000679.2:g.44911317T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 42988685, "referenceAllele": "T", "start": 42988684 } ], "hgvs": [ "NC_000017.10:g.42988685T>A", "CM000679.1:g.42988685T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 40344211, "referenceAllele": "T", "start": 40344210 } ], "hgvs": [ "NC_000017.9:g.40344211T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 9230, "referenceAllele": "A", "start": 9229 } ], "hgvs": [ "NG_008401.1:g.9230A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001080" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000253408.11:c.1046A>T" ], "proteinEffect": { "hgvs": "ENSP00000253408.5:p.Tyr349Phe", "hgvsWellDefined": "ENSP00000253408.5:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS823596" }, { "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000435360.8:c.1046A>T" ], "proteinEffect": { "hgvs": "ENSP00000403962.1:p.Tyr349Phe", "hgvsWellDefined": "ENSP00000403962.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS824873" }, { "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000253408.10:c.1046A>T" ], "proteinEffect": { "hgvs": "ENSP00000253408.5:p.Tyr349Phe", "hgvsWellDefined": "ENSP00000253408.5:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS741599" }, { "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000435360.7:c.1046A>T" ], "proteinEffect": { "hgvs": "ENSP00000403962.1:p.Tyr349Phe", "hgvsWellDefined": "ENSP00000403962.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS755556" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000585543.6:n.199A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS760998" }, { "coordinates": [ { "allele": "T", "end": 1575, "referenceAllele": "A", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000586127.6:n.1575A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS761022" }, { "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "A", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000586793.6:c.911A>T" ], "proteinEffect": { "hgvs": "ENSP00000468500.2:p.Tyr304Phe", "hgvsWellDefined": "ENSP00000468500.2:p.Tyr304Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS761054" }, { "coordinates": [ { "allele": "T", "end": 522, "referenceAllele": "A", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000587997.6:n.522A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS761102" }, { "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000588735.3:c.1046A>T" ], "proteinEffect": { "hgvs": "ENSP00000466598.2:p.Tyr349Phe", "hgvsWellDefined": "ENSP00000466598.2:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS761134", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000588735.3:c.1046A>T" }, "RefSeq": { "hgvs": "NM_002055.5:c.1046A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000466598.2:p.Tyr349Phe" }, "RefSeq": { "hgvs": "NP_002046.1:p.Tyr349Phe" } } } }, { "coordinates": [ { "allele": "T", "end": 2200, "referenceAllele": "A", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000591327.2:n.2200A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS761236" }, { "coordinates": [ { "allele": "T", "end": 641, "referenceAllele": "A", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000592320.6:c.623A>T" ], "proteinEffect": { "hgvs": "ENSP00000465320.1:p.Tyr208Phe", "hgvsWellDefined": "ENSP00000465320.1:p.Tyr208Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS761278" }, { "coordinates": [ { "allele": "T", "end": 1046, "referenceAllele": "A", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000638281.1:c.1046A>T" ], "proteinEffect": { "hgvs": "ENSP00000491088.1:p.Tyr349Phe", "hgvsWellDefined": "ENSP00000491088.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS764448" }, { "coordinates": [ { "allele": "T", "end": 701, "referenceAllele": "A", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000638618.1:c.701A>T" ], "proteinEffect": { "hgvs": "ENSP00000492832.1:p.Tyr234Phe", "hgvsWellDefined": "ENSP00000492832.1:p.Tyr234Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS764619" }, { "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000639277.1:c.1046A>T" ], "proteinEffect": { "hgvs": "ENSP00000492432.1:p.Tyr349Phe", "hgvsWellDefined": "ENSP00000492432.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS764950" }, { "coordinates": [ { "allele": "T", "end": 3, "referenceAllele": "A", "start": 2 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000639921.1:c.3A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS765243" }, { "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000640552.1:n.1060A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS765549" }, { "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "A", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000253408.9:c.1046A>T" ], "proteinEffect": { "hgvs": "ENSP00000253408.4:p.Tyr349Phe", "hgvsWellDefined": "ENSP00000253408.4:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS249928" }, { "coordinates": [ { "allele": "T", "end": 999, "referenceAllele": "A", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000376990.8:c.*445A>T" ], "proteinEffect": { "hgvs": "ENSP00000366189.4:n.*445A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS271406" }, { "coordinates": [ { "allele": "T", "end": 1054, "referenceAllele": "A", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000435360.6:c.1046A>T" ], "proteinEffect": { "hgvs": "ENSP00000403962.1:p.Tyr349Phe", "hgvsWellDefined": "ENSP00000403962.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS293488" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "A", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000585543.5:n.199A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS388793" }, { "coordinates": [ { "allele": "T", "end": 1054, "referenceAllele": "A", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000586793.5:c.1046A>T" ], "proteinEffect": { "hgvs": "ENSP00000468500.1:p.Tyr349Phe", "hgvsWellDefined": "ENSP00000468500.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS389642" }, { "coordinates": [ { "allele": "T", "end": 522, "referenceAllele": "A", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000587997.5:c.522A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390474" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "A", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000588640.5:n.426A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390922" }, { "coordinates": [ { "allele": "T", "end": 96, "endIntronDirection": "-", "endIntronOffset": 3200, "referenceAllele": "A", "start": 96, "startIntronDirection": "-", "startIntronOffset": 3201 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000588735.1:c.83-3201A>T" ], "proteinEffect": { "hgvs": "ENSP00000466598.1:n.83-3201A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS390990" }, { "coordinates": [ { "allele": "T", "end": 641, "referenceAllele": "A", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "ENST00000592320.5:c.623A>T" ], "proteinEffect": { "hgvs": "ENSP00000465320.1:p.Tyr208Phe", "hgvsWellDefined": "ENSP00000465320.1:p.Tyr208Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS393482" }, { "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "A", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001131019.2:c.1046A>T" ], "proteinEffect": { "hgvs": "NP_001124491.1:p.Tyr349Phe", "hgvsWellDefined": "NP_001124491.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS012172" }, { "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "A", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001242376.1:c.1046A>T" ], "proteinEffect": { "hgvs": "NP_001229305.1:p.Tyr349Phe", "hgvsWellDefined": "NP_001229305.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS018095" }, { "@id": "http://reg.genome.network/allele/PA3084558911", "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "A", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_002055.4:c.1046A>T" ], "proteinEffect": { "hgvs": "NP_002046.1:p.Tyr349Phe", "hgvsWellDefined": "NP_002046.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS027381" }, { "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "A", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001363846.1:c.1046A>T" ], "proteinEffect": { "hgvs": "NP_001350775.1:p.Tyr349Phe", "hgvsWellDefined": "NP_001350775.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS523597" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "A", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "XM_024450690.1:c.1250A>T" ], "proteinEffect": { "hgvs": "XP_024306458.1:p.Tyr417Phe", "hgvsWellDefined": "XP_024306458.1:p.Tyr417Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS584222" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "A", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "XM_024450691.1:c.1250A>T" ], "proteinEffect": { "hgvs": "XP_024306459.1:p.Tyr417Phe", "hgvsWellDefined": "XP_024306459.1:p.Tyr417Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS584223" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "A", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "XM_024450692.1:c.1250A>T" ], "proteinEffect": { "hgvs": "XP_024306460.1:p.Tyr417Phe", "hgvsWellDefined": "XP_024306460.1:p.Tyr417Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS584224" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "A", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "XM_024450693.1:c.1250A>T" ], "proteinEffect": { "hgvs": "XP_024306461.1:p.Tyr417Phe", "hgvsWellDefined": "XP_024306461.1:p.Tyr417Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS584225" }, { "@id": "http://reg.genome.network/allele/PA3084558911", "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_002055.5:c.1046A>T" ], "proteinEffect": { "hgvs": "NP_002046.1:p.Tyr349Phe", "hgvsWellDefined": "NP_002046.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS665321", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000588735.3:c.1046A>T" }, "RefSeq": { "hgvs": "NM_002055.5:c.1046A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000466598.2:p.Tyr349Phe" }, "RefSeq": { "hgvs": "NP_002046.1:p.Tyr349Phe" } } } }, { "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001131019.3:c.1046A>T" ], "proteinEffect": { "hgvs": "NP_001124491.1:p.Tyr349Phe", "hgvsWellDefined": "NP_001124491.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS677194" }, { "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001242376.2:c.1046A>T" ], "proteinEffect": { "hgvs": "NP_001229305.1:p.Tyr349Phe", "hgvsWellDefined": "NP_001229305.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS680060" }, { "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001242376.3:c.1046A>T" ], "proteinEffect": { "hgvs": "NP_001229305.1:p.Tyr349Phe", "hgvsWellDefined": "NP_001229305.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS714309" }, { "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN004235", "geneNCBI_id": 2670, "geneSymbol": "GFAP", "hgvs": [ "NM_001363846.2:c.1046A>T" ], "proteinEffect": { "hgvs": "NP_001350775.1:p.Tyr349Phe", "hgvsWellDefined": "NP_001350775.1:p.Tyr349Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS720802" } ], "type": "nucleotide" }