{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA116710", "communityStandardTitle": [ "NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19265[alleleid]", "alleleId": 19265, "preferredName": "NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4226", "RCV": [ "RCV000004447", "RCV000201040", "RCV000532707", "RCV000597675", "RCV003466808" ], "variationId": 4226 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.47260071C>A?assembly=hg19", "id": "chr19:g.47260071C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.46756814C>A?assembly=hg38", "id": "chr19:g.46756814C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/28937903", "rs": 28937903 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-46756814-C-A?dataset=gnomad_r4", "id": "19-46756814-C-A", "variant": "19:46756814 C / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 46756814, "referenceAllele": "C", "start": 46756813 } ], "hgvs": [ "NC_000019.10:g.46756814C>A", "CM000681.2:g.46756814C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 47260071, "referenceAllele": "C", "start": 47260070 } ], "hgvs": [ "NC_000019.9:g.47260071C>A", "CM000681.1:g.47260071C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 51951911, "referenceAllele": "C", "start": 51951910 } ], "hgvs": [ "NC_000019.8:g.51951911C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 15769, "referenceAllele": "C", "start": 15768 } ], "hgvs": [ "NG_008898.2:g.15769C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001290" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000318584.10:c.1364C>A" ], "proteinEffect": { "hgvs": "ENSP00000326570.4:p.Ala455Asp", "hgvsWellDefined": "ENSP00000326570.4:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS746230", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.1364C>A" }, "RefSeq": { "hgvs": "NM_024301.5:c.1364C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Ala455Asp" }, "RefSeq": { "hgvs": "NP_077277.1:p.Ala455Asp" } } } }, { "coordinates": [ { "allele": "A", "end": 1661, "referenceAllele": "C", "start": 1660 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000318584.9:c.1364C>A" ], "proteinEffect": { "hgvs": "ENSP00000326570.4:p.Ala455Asp", "hgvsWellDefined": "ENSP00000326570.4:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS257554" }, { "coordinates": [ { "allele": "A", "end": 1702, "referenceAllele": "C", "start": 1701 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000391909.7:c.1364C>A" ], "proteinEffect": { "hgvs": "ENSP00000375776.2:p.Ala455Asp", "hgvsWellDefined": "ENSP00000375776.2:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS274819" }, { "coordinates": [ { "allele": "A", "end": 246, "endIntronDirection": "-", "endIntronOffset": 5018, "referenceAllele": "C", "start": 246, "startIntronDirection": "-", "startIntronOffset": 5019 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000597339.5:n.247-5019C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS395923" }, { "coordinates": [ { "allele": "A", "end": 247, "endIntronDirection": "+", "endIntronOffset": 8149, "referenceAllele": "C", "start": 247, "startIntronDirection": "+", "startIntronOffset": 8148 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000600646.5:n.247+8149C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS397379" }, { "@id": "http://reg.genome.network/allele/PA093902", "coordinates": [ { "allele": "A", "end": 1713, "referenceAllele": "C", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.2:c.1364C>A" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Ala455Asp", "hgvsWellDefined": "NP_001034974.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS009459" }, { "@id": "http://reg.genome.network/allele/PA116711", "coordinates": [ { "allele": "A", "end": 1661, "referenceAllele": "C", "start": 1660 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.4:c.1364C>A" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Ala455Asp", "hgvsWellDefined": "NP_077277.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS037714" }, { "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "C", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.1:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Ala455Asp", "hgvsWellDefined": "XP_005259304.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS062349" }, { "coordinates": [ { "allele": "A", "end": 1733, "referenceAllele": "C", "start": 1732 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.1:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Ala455Asp", "hgvsWellDefined": "XP_005259305.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS062350" }, { "coordinates": [ { "allele": "A", "end": 1711, "referenceAllele": "C", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.3:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Ala455Asp", "hgvsWellDefined": "XP_005259306.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS062351" }, { "coordinates": [ { "allele": "A", "end": 1759, "referenceAllele": "C", "start": 1758 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259250.3:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_005259307.1:p.Ala455Asp", "hgvsWellDefined": "XP_005259307.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS062352" }, { "coordinates": [ { "allele": "A", "end": 2055, "referenceAllele": "C", "start": 2054 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527301.1:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_011525603.1:p.Ala455Asp", "hgvsWellDefined": "XP_011525603.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS094395" }, { "coordinates": [ { "allele": "A", "end": 2044, "referenceAllele": "C", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527302.1:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_011525604.1:p.Ala455Asp", "hgvsWellDefined": "XP_011525604.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS094396" }, { "coordinates": [ { "allele": "A", "end": 1857, "referenceAllele": "C", "start": 1856 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527303.1:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_011525605.1:p.Ala455Asp", "hgvsWellDefined": "XP_011525605.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS094397" }, { "coordinates": [ { "allele": "A", "end": 1795, "referenceAllele": "C", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527304.1:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_011525606.1:p.Ala455Asp", "hgvsWellDefined": "XP_011525606.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS094398" }, { "coordinates": [ { "allele": "A", "end": 1641, "referenceAllele": "C", "start": 1640 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527305.1:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_011525607.1:p.Ala455Asp", "hgvsWellDefined": "XP_011525607.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS094399" }, { "coordinates": [ { "allele": "A", "end": 1510, "referenceAllele": "C", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.1:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Ala455Asp", "hgvsWellDefined": "XP_011525608.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS094400" }, { "coordinates": [ { "allele": "A", "end": 1559, "referenceAllele": "C", "start": 1558 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527307.1:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_011525609.1:p.Ala455Asp", "hgvsWellDefined": "XP_011525609.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS094401" }, { "coordinates": [ { "allele": "A", "end": 1774, "referenceAllele": "C", "start": 1773 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.2:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Ala455Asp", "hgvsWellDefined": "XP_005259304.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS534968" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.2:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Ala455Asp", "hgvsWellDefined": "XP_005259305.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS534969" }, { "coordinates": [ { "allele": "A", "end": 1706, "referenceAllele": "C", "start": 1705 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.4:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Ala455Asp", "hgvsWellDefined": "XP_005259306.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS534970" }, { "coordinates": [ { "allele": "A", "end": 1499, "referenceAllele": "C", "start": 1498 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.2:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Ala455Asp", "hgvsWellDefined": "XP_011525608.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS548617" }, { "coordinates": [ { "allele": "A", "end": 1869, "referenceAllele": "C", "start": 1868 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_017027297.2:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_016882786.1:p.Ala455Asp", "hgvsWellDefined": "XP_016882786.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS577270" }, { "coordinates": [ { "allele": "A", "end": 1571, "referenceAllele": "C", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_024451707.1:c.1364C>A" ], "proteinEffect": { "hgvs": "XP_024307475.1:p.Ala455Asp", "hgvsWellDefined": "XP_024307475.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS585218" }, { "@id": "http://reg.genome.network/allele/PA093902", "coordinates": [ { "allele": "A", "end": 1702, "referenceAllele": "C", "start": 1701 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.3:c.1364C>A" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Ala455Asp", "hgvsWellDefined": "NP_001034974.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS675931" }, { "@id": "http://reg.genome.network/allele/PA116711", "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.5:c.1364C>A" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Ala455Asp", "hgvsWellDefined": "NP_077277.1:p.Ala455Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS698678", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.1364C>A" }, "RefSeq": { "hgvs": "NM_024301.5:c.1364C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Ala455Asp" }, "RefSeq": { "hgvs": "NP_077277.1:p.Ala455Asp" } } } } ], "type": "nucleotide" }