{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA406496338", "communityStandardTitle": [ "NM_024301.5(FKRP):c.947C>A (p.Pro316His)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.47259654C>A?assembly=hg19", "id": "chr19:g.47259654C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.46756397C>A?assembly=hg38", "id": "chr19:g.46756397C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/752582904", "rs": 752582904 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-46756397-C-A?dataset=gnomad_r4", "id": "19-46756397-C-A", "variant": "19:46756397 C / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 46756397, "referenceAllele": "C", "start": 46756396 } ], "hgvs": [ "NC_000019.10:g.46756397C>A", "CM000681.2:g.46756397C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 47259654, "referenceAllele": "C", "start": 47259653 } ], "hgvs": [ "NC_000019.9:g.47259654C>A", "CM000681.1:g.47259654C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 51951494, "referenceAllele": "C", "start": 51951493 } ], "hgvs": [ "NC_000019.8:g.51951494C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 15352, "referenceAllele": "C", "start": 15351 } ], "hgvs": [ "NG_008898.2:g.15352C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001290" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1233, "referenceAllele": "C", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000318584.10:c.947C>A" ], "proteinEffect": { "hgvs": "ENSP00000326570.4:p.Pro316His", "hgvsWellDefined": "ENSP00000326570.4:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS746230", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.947C>A" }, "RefSeq": { "hgvs": "NM_024301.5:c.947C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Pro316His" }, "RefSeq": { "hgvs": "NP_077277.1:p.Pro316His" } } } }, { "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "C", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000318584.9:c.947C>A" ], "proteinEffect": { "hgvs": "ENSP00000326570.4:p.Pro316His", "hgvsWellDefined": "ENSP00000326570.4:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS257554" }, { "coordinates": [ { "allele": "A", "end": 1285, "referenceAllele": "C", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000391909.7:c.947C>A" ], "proteinEffect": { "hgvs": "ENSP00000375776.2:p.Pro316His", "hgvsWellDefined": "ENSP00000375776.2:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS274819" }, { "coordinates": [ { "allele": "A", "end": 246, "endIntronDirection": "-", "endIntronOffset": 5435, "referenceAllele": "C", "start": 246, "startIntronDirection": "-", "startIntronOffset": 5436 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000597339.5:n.247-5436C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS395923" }, { "coordinates": [ { "allele": "A", "end": 247, "endIntronDirection": "+", "endIntronOffset": 7732, "referenceAllele": "C", "start": 247, "startIntronDirection": "+", "startIntronOffset": 7731 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000600646.5:n.247+7732C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS397379" }, { "coordinates": [ { "allele": "A", "end": 1296, "referenceAllele": "C", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.2:c.947C>A" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Pro316His", "hgvsWellDefined": "NP_001034974.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS009459" }, { "@id": "http://reg.genome.network/allele/PA3086178907", "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "C", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.4:c.947C>A" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Pro316His", "hgvsWellDefined": "NP_077277.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS037714" }, { "coordinates": [ { "allele": "A", "end": 1356, "referenceAllele": "C", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.1:c.947C>A" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Pro316His", "hgvsWellDefined": "XP_005259304.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS062349" }, { "coordinates": [ { "allele": "A", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.1:c.947C>A" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Pro316His", "hgvsWellDefined": "XP_005259305.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS062350" }, { "coordinates": [ { "allele": "A", "end": 1294, "referenceAllele": "C", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.3:c.947C>A" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Pro316His", "hgvsWellDefined": "XP_005259306.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS062351" }, { "coordinates": [ { "allele": "A", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259250.3:c.947C>A" ], "proteinEffect": { "hgvs": "XP_005259307.1:p.Pro316His", "hgvsWellDefined": "XP_005259307.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS062352" }, { "coordinates": [ { "allele": "A", "end": 1638, "referenceAllele": "C", "start": 1637 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527301.1:c.947C>A" ], "proteinEffect": { "hgvs": "XP_011525603.1:p.Pro316His", "hgvsWellDefined": "XP_011525603.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS094395" }, { "coordinates": [ { "allele": "A", "end": 1627, "referenceAllele": "C", "start": 1626 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527302.1:c.947C>A" ], "proteinEffect": { "hgvs": "XP_011525604.1:p.Pro316His", "hgvsWellDefined": "XP_011525604.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS094396" }, { "coordinates": [ { "allele": "A", "end": 1440, "referenceAllele": "C", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527303.1:c.947C>A" ], "proteinEffect": { "hgvs": "XP_011525605.1:p.Pro316His", "hgvsWellDefined": "XP_011525605.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS094397" }, { "coordinates": [ { "allele": "A", "end": 1378, "referenceAllele": "C", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527304.1:c.947C>A" ], "proteinEffect": { "hgvs": "XP_011525606.1:p.Pro316His", "hgvsWellDefined": "XP_011525606.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS094398" }, { "coordinates": [ { "allele": "A", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527305.1:c.947C>A" ], "proteinEffect": { "hgvs": "XP_011525607.1:p.Pro316His", "hgvsWellDefined": "XP_011525607.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS094399" }, { "coordinates": [ { "allele": "A", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.1:c.947C>A" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Pro316His", "hgvsWellDefined": "XP_011525608.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS094400" }, { "coordinates": [ { "allele": "A", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527307.1:c.947C>A" ], "proteinEffect": { "hgvs": "XP_011525609.1:p.Pro316His", "hgvsWellDefined": "XP_011525609.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS094401" }, { "coordinates": [ { "allele": "A", "end": 1357, "referenceAllele": "C", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.2:c.947C>A" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Pro316His", "hgvsWellDefined": "XP_005259304.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS534968" }, { "coordinates": [ { "allele": "A", "end": 1347, "referenceAllele": "C", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.2:c.947C>A" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Pro316His", "hgvsWellDefined": "XP_005259305.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS534969" }, { "coordinates": [ { "allele": "A", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.4:c.947C>A" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Pro316His", "hgvsWellDefined": "XP_005259306.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS534970" }, { "coordinates": [ { "allele": "A", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.2:c.947C>A" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Pro316His", "hgvsWellDefined": "XP_011525608.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS548617" }, { "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_017027297.2:c.947C>A" ], "proteinEffect": { "hgvs": "XP_016882786.1:p.Pro316His", "hgvsWellDefined": "XP_016882786.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS577270" }, { "coordinates": [ { "allele": "A", "end": 1154, "referenceAllele": "C", "start": 1153 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_024451707.1:c.947C>A" ], "proteinEffect": { "hgvs": "XP_024307475.1:p.Pro316His", "hgvsWellDefined": "XP_024307475.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS585218" }, { "coordinates": [ { "allele": "A", "end": 1285, "referenceAllele": "C", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.3:c.947C>A" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Pro316His", "hgvsWellDefined": "NP_001034974.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS675931" }, { "@id": "http://reg.genome.network/allele/PA3086178907", "coordinates": [ { "allele": "A", "end": 1233, "referenceAllele": "C", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.5:c.947C>A" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Pro316His", "hgvsWellDefined": "NP_077277.1:p.Pro316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS698678", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.947C>A" }, "RefSeq": { "hgvs": "NM_024301.5:c.947C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Pro316His" }, "RefSeq": { "hgvs": "NP_077277.1:p.Pro316His" } } } } ], "type": "nucleotide" }