{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9532194", "communityStandardTitle": [ "NM_024301.5(FKRP):c.731G>A (p.Arg244His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=267275[alleleid]", "alleleId": 267275, "preferredName": "NM_024301.5(FKRP):c.731G>A (p.Arg244His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/283038", "RCV": [ "RCV000331999", "RCV000457561", "RCV000664793", "RCV000725201", "RCV002379117" ], "variationId": 283038 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-47259438-G-A", "id": "19-47259438-G-A", "variant": "19:47259438 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.47259438G>A?assembly=hg19", "id": "chr19:g.47259438G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.46756181G>A?assembly=hg38", "id": "chr19:g.46756181G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/764641619", "rs": 764641619 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-47259438-G-A?dataset=gnomad_r2_1", "id": "19-47259438-G-A", "variant": "19:47259438 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-46756181-G-A?dataset=gnomad_r3", "id": "19-46756181-G-A", "variant": "19:46756181 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-46756181-G-A?dataset=gnomad_r4", "id": "19-46756181-G-A", "variant": "19:46756181 G / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 46756181, "referenceAllele": "G", "start": 46756180 } ], "hgvs": [ "NC_000019.10:g.46756181G>A", "CM000681.2:g.46756181G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 47259438, "referenceAllele": "G", "start": 47259437 } ], "hgvs": [ "NC_000019.9:g.47259438G>A", "CM000681.1:g.47259438G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 51951278, "referenceAllele": "G", "start": 51951277 } ], "hgvs": [ "NC_000019.8:g.51951278G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 15136, "referenceAllele": "G", "start": 15135 } ], "hgvs": [ "NG_008898.2:g.15136G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001290" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1017, "referenceAllele": "G", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000318584.10:c.731G>A" ], "proteinEffect": { "hgvs": "ENSP00000326570.4:p.Arg244His", "hgvsWellDefined": "ENSP00000326570.4:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS746230", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.731G>A" }, "RefSeq": { "hgvs": "NM_024301.5:c.731G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Arg244His" }, "RefSeq": { "hgvs": "NP_077277.1:p.Arg244His" } } } }, { "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "G", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000318584.9:c.731G>A" ], "proteinEffect": { "hgvs": "ENSP00000326570.4:p.Arg244His", "hgvsWellDefined": "ENSP00000326570.4:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS257554" }, { "coordinates": [ { "allele": "A", "end": 1069, "referenceAllele": "G", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000391909.7:c.731G>A" ], "proteinEffect": { "hgvs": "ENSP00000375776.2:p.Arg244His", "hgvsWellDefined": "ENSP00000375776.2:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS274819" }, { "coordinates": [ { "allele": "A", "end": 246, "endIntronDirection": "-", "endIntronOffset": 5651, "referenceAllele": "G", "start": 246, "startIntronDirection": "-", "startIntronOffset": 5652 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000597339.5:n.247-5652G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS395923" }, { "coordinates": [ { "allele": "A", "end": 247, "endIntronDirection": "+", "endIntronOffset": 7516, "referenceAllele": "G", "start": 247, "startIntronDirection": "+", "startIntronOffset": 7515 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000600646.5:n.247+7516G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS397379" }, { "@id": "http://reg.genome.network/allele/PA2825388363", "coordinates": [ { "allele": "A", "end": 1080, "referenceAllele": "G", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.2:c.731G>A" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Arg244His", "hgvsWellDefined": "NP_001034974.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS009459" }, { "@id": "http://reg.genome.network/allele/PA645453540", "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "G", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.4:c.731G>A" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Arg244His", "hgvsWellDefined": "NP_077277.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS037714" }, { "coordinates": [ { "allele": "A", "end": 1140, "referenceAllele": "G", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.1:c.731G>A" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Arg244His", "hgvsWellDefined": "XP_005259304.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS062349" }, { "coordinates": [ { "allele": "A", "end": 1100, "referenceAllele": "G", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.1:c.731G>A" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Arg244His", "hgvsWellDefined": "XP_005259305.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS062350" }, { "coordinates": [ { "allele": "A", "end": 1078, "referenceAllele": "G", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.3:c.731G>A" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Arg244His", "hgvsWellDefined": "XP_005259306.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS062351" }, { "coordinates": [ { "allele": "A", "end": 1126, "referenceAllele": "G", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259250.3:c.731G>A" ], "proteinEffect": { "hgvs": "XP_005259307.1:p.Arg244His", "hgvsWellDefined": "XP_005259307.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS062352" }, { "coordinates": [ { "allele": "A", "end": 1422, "referenceAllele": "G", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527301.1:c.731G>A" ], "proteinEffect": { "hgvs": "XP_011525603.1:p.Arg244His", "hgvsWellDefined": "XP_011525603.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS094395" }, { "coordinates": [ { "allele": "A", "end": 1411, "referenceAllele": "G", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527302.1:c.731G>A" ], "proteinEffect": { "hgvs": "XP_011525604.1:p.Arg244His", "hgvsWellDefined": "XP_011525604.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS094396" }, { "coordinates": [ { "allele": "A", "end": 1224, "referenceAllele": "G", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527303.1:c.731G>A" ], "proteinEffect": { "hgvs": "XP_011525605.1:p.Arg244His", "hgvsWellDefined": "XP_011525605.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS094397" }, { "coordinates": [ { "allele": "A", "end": 1162, "referenceAllele": "G", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527304.1:c.731G>A" ], "proteinEffect": { "hgvs": "XP_011525606.1:p.Arg244His", "hgvsWellDefined": "XP_011525606.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS094398" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527305.1:c.731G>A" ], "proteinEffect": { "hgvs": "XP_011525607.1:p.Arg244His", "hgvsWellDefined": "XP_011525607.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS094399" }, { "coordinates": [ { "allele": "A", "end": 877, "referenceAllele": "G", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.1:c.731G>A" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Arg244His", "hgvsWellDefined": "XP_011525608.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS094400" }, { "coordinates": [ { "allele": "A", "end": 926, "referenceAllele": "G", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527307.1:c.731G>A" ], "proteinEffect": { "hgvs": "XP_011525609.1:p.Arg244His", "hgvsWellDefined": "XP_011525609.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS094401" }, { "coordinates": [ { "allele": "A", "end": 1141, "referenceAllele": "G", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.2:c.731G>A" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Arg244His", "hgvsWellDefined": "XP_005259304.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS534968" }, { "coordinates": [ { "allele": "A", "end": 1131, "referenceAllele": "G", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.2:c.731G>A" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Arg244His", "hgvsWellDefined": "XP_005259305.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS534969" }, { "coordinates": [ { "allele": "A", "end": 1073, "referenceAllele": "G", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.4:c.731G>A" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Arg244His", "hgvsWellDefined": "XP_005259306.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS534970" }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "G", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.2:c.731G>A" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Arg244His", "hgvsWellDefined": "XP_011525608.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS548617" }, { "coordinates": [ { "allele": "A", "end": 1236, "referenceAllele": "G", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_017027297.2:c.731G>A" ], "proteinEffect": { "hgvs": "XP_016882786.1:p.Arg244His", "hgvsWellDefined": "XP_016882786.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS577270" }, { "coordinates": [ { "allele": "A", "end": 938, "referenceAllele": "G", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_024451707.1:c.731G>A" ], "proteinEffect": { "hgvs": "XP_024307475.1:p.Arg244His", "hgvsWellDefined": "XP_024307475.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS585218" }, { "@id": "http://reg.genome.network/allele/PA2825388363", "coordinates": [ { "allele": "A", "end": 1069, "referenceAllele": "G", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.3:c.731G>A" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Arg244His", "hgvsWellDefined": "NP_001034974.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS675931" }, { "@id": "http://reg.genome.network/allele/PA645453540", "coordinates": [ { "allele": "A", "end": 1017, "referenceAllele": "G", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.5:c.731G>A" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Arg244His", "hgvsWellDefined": "NP_077277.1:p.Arg244His" }, "referenceSequence": "http://reg.genome.network/refseq/RS698678", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.731G>A" }, "RefSeq": { "hgvs": "NM_024301.5:c.731G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Arg244His" }, "RefSeq": { "hgvs": "NP_077277.1:p.Arg244His" } } } } ], "type": "nucleotide" }