{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA406497353", "communityStandardTitle": [ "NM_024301.5(FKRP):c.1432A>G (p.Ile478Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1989669[alleleid]", "alleleId": 1989669, "preferredName": "NM_024301.5(FKRP):c.1432A>G (p.Ile478Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1935959", "RCV": [ "RCV002636169" ], "variationId": 1935959 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.47260139A>G?assembly=hg19", "id": "chr19:g.47260139A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.46756882A>G?assembly=hg38", "id": "chr19:g.46756882A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2514000287", "rs": 2514000287 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "G", "end": 46756882, "referenceAllele": "A", "start": 46756881 } ], "hgvs": [ "NC_000019.10:g.46756882A>G", "CM000681.2:g.46756882A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "G", "end": 47260139, "referenceAllele": "A", "start": 47260138 } ], "hgvs": [ "NC_000019.9:g.47260139A>G", "CM000681.1:g.47260139A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "G", "end": 51951979, "referenceAllele": "A", "start": 51951978 } ], "hgvs": [ "NC_000019.8:g.51951979A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "G", "end": 15837, "referenceAllele": "A", "start": 15836 } ], "hgvs": [ "NG_008898.2:g.15837A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001290" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1718, "referenceAllele": "A", "start": 1717 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000318584.10:c.1432A>G" ], "proteinEffect": { "hgvs": "ENSP00000326570.4:p.Ile478Val", "hgvsWellDefined": "ENSP00000326570.4:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS746230", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.1432A>G" }, "RefSeq": { "hgvs": "NM_024301.5:c.1432A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Ile478Val" }, "RefSeq": { "hgvs": "NP_077277.1:p.Ile478Val" } } } }, { "coordinates": [ { "allele": "G", "end": 1729, "referenceAllele": "A", "start": 1728 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000318584.9:c.1432A>G" ], "proteinEffect": { "hgvs": "ENSP00000326570.4:p.Ile478Val", "hgvsWellDefined": "ENSP00000326570.4:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS257554" }, { "coordinates": [ { "allele": "G", "end": 1770, "referenceAllele": "A", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000391909.7:c.1432A>G" ], "proteinEffect": { "hgvs": "ENSP00000375776.2:p.Ile478Val", "hgvsWellDefined": "ENSP00000375776.2:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS274819" }, { "coordinates": [ { "allele": "G", "end": 246, "endIntronDirection": "-", "endIntronOffset": 4950, "referenceAllele": "A", "start": 246, "startIntronDirection": "-", "startIntronOffset": 4951 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000597339.5:n.247-4951A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS395923" }, { "coordinates": [ { "allele": "G", "end": 247, "endIntronDirection": "+", "endIntronOffset": 8217, "referenceAllele": "A", "start": 247, "startIntronDirection": "+", "startIntronOffset": 8216 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000600646.5:n.247+8217A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS397379" }, { "@id": "http://reg.genome.network/allele/PA2825388747", "coordinates": [ { "allele": "G", "end": 1781, "referenceAllele": "A", "start": 1780 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.2:c.1432A>G" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Ile478Val", "hgvsWellDefined": "NP_001034974.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS009459" }, { "@id": "http://reg.genome.network/allele/PA2580456037", "coordinates": [ { "allele": "G", "end": 1729, "referenceAllele": "A", "start": 1728 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.4:c.1432A>G" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Ile478Val", "hgvsWellDefined": "NP_077277.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS037714" }, { "coordinates": [ { "allele": "G", "end": 1841, "referenceAllele": "A", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.1:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Ile478Val", "hgvsWellDefined": "XP_005259304.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS062349" }, { "coordinates": [ { "allele": "G", "end": 1801, "referenceAllele": "A", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.1:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Ile478Val", "hgvsWellDefined": "XP_005259305.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS062350" }, { "coordinates": [ { "allele": "G", "end": 1779, "referenceAllele": "A", "start": 1778 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.3:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Ile478Val", "hgvsWellDefined": "XP_005259306.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS062351" }, { "coordinates": [ { "allele": "G", "end": 1827, "referenceAllele": "A", "start": 1826 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259250.3:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_005259307.1:p.Ile478Val", "hgvsWellDefined": "XP_005259307.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS062352" }, { "coordinates": [ { "allele": "G", "end": 2123, "referenceAllele": "A", "start": 2122 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527301.1:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_011525603.1:p.Ile478Val", "hgvsWellDefined": "XP_011525603.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS094395" }, { "coordinates": [ { "allele": "G", "end": 2112, "referenceAllele": "A", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527302.1:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_011525604.1:p.Ile478Val", "hgvsWellDefined": "XP_011525604.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS094396" }, { "coordinates": [ { "allele": "G", "end": 1925, "referenceAllele": "A", "start": 1924 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527303.1:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_011525605.1:p.Ile478Val", "hgvsWellDefined": "XP_011525605.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS094397" }, { "coordinates": [ { "allele": "G", "end": 1863, "referenceAllele": "A", "start": 1862 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527304.1:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_011525606.1:p.Ile478Val", "hgvsWellDefined": "XP_011525606.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS094398" }, { "coordinates": [ { "allele": "G", "end": 1709, "referenceAllele": "A", "start": 1708 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527305.1:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_011525607.1:p.Ile478Val", "hgvsWellDefined": "XP_011525607.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS094399" }, { "coordinates": [ { "allele": "G", "end": 1578, "referenceAllele": "A", "start": 1577 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.1:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Ile478Val", "hgvsWellDefined": "XP_011525608.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS094400" }, { "coordinates": [ { "allele": "G", "end": 1627, "referenceAllele": "A", "start": 1626 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527307.1:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_011525609.1:p.Ile478Val", "hgvsWellDefined": "XP_011525609.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS094401" }, { "coordinates": [ { "allele": "G", "end": 1842, "referenceAllele": "A", "start": 1841 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.2:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Ile478Val", "hgvsWellDefined": "XP_005259304.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS534968" }, { "coordinates": [ { "allele": "G", "end": 1832, "referenceAllele": "A", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.2:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Ile478Val", "hgvsWellDefined": "XP_005259305.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS534969" }, { "coordinates": [ { "allele": "G", "end": 1774, "referenceAllele": "A", "start": 1773 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.4:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Ile478Val", "hgvsWellDefined": "XP_005259306.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS534970" }, { "coordinates": [ { "allele": "G", "end": 1567, "referenceAllele": "A", "start": 1566 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.2:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Ile478Val", "hgvsWellDefined": "XP_011525608.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS548617" }, { "coordinates": [ { "allele": "G", "end": 1937, "referenceAllele": "A", "start": 1936 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_017027297.2:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_016882786.1:p.Ile478Val", "hgvsWellDefined": "XP_016882786.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS577270" }, { "coordinates": [ { "allele": "G", "end": 1639, "referenceAllele": "A", "start": 1638 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_024451707.1:c.1432A>G" ], "proteinEffect": { "hgvs": "XP_024307475.1:p.Ile478Val", "hgvsWellDefined": "XP_024307475.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS585218" }, { "@id": "http://reg.genome.network/allele/PA2825388747", "coordinates": [ { "allele": "G", "end": 1770, "referenceAllele": "A", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.3:c.1432A>G" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Ile478Val", "hgvsWellDefined": "NP_001034974.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS675931" }, { "@id": "http://reg.genome.network/allele/PA2580456037", "coordinates": [ { "allele": "G", "end": 1718, "referenceAllele": "A", "start": 1717 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.5:c.1432A>G" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Ile478Val", "hgvsWellDefined": "NP_077277.1:p.Ile478Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS698678", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.1432A>G" }, "RefSeq": { "hgvs": "NM_024301.5:c.1432A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Ile478Val" }, "RefSeq": { "hgvs": "NP_077277.1:p.Ile478Val" } } } } ], "type": "nucleotide" }