{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA309099625", "communityStandardTitle": [ "NM_024301.5(FKRP):c.935G>T (p.Arg312Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1170360[alleleid]", "alleleId": 1170360, "preferredName": "NM_024301.5(FKRP):c.935G>T (p.Arg312Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1180823", "RCV": [ "RCV001814552", "RCV001873816" ], "variationId": 1180823 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.47259642G>T?assembly=hg19", "id": "chr19:g.47259642G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.46756385G>T?assembly=hg38", "id": "chr19:g.46756385G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/868138875", "rs": 868138875 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-46756385-G-T?dataset=gnomad_r4", "id": "19-46756385-G-T", "variant": "19:46756385 G / T" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 46756385, "referenceAllele": "G", "start": 46756384 } ], "hgvs": [ "NC_000019.10:g.46756385G>T", "CM000681.2:g.46756385G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 47259642, "referenceAllele": "G", "start": 47259641 } ], "hgvs": [ "NC_000019.9:g.47259642G>T", "CM000681.1:g.47259642G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 51951482, "referenceAllele": "G", "start": 51951481 } ], "hgvs": [ "NC_000019.8:g.51951482G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 15340, "referenceAllele": "G", "start": 15339 } ], "hgvs": [ "NG_008898.2:g.15340G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001290" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1221, "referenceAllele": "G", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000318584.10:c.935G>T" ], "proteinEffect": { "hgvs": "ENSP00000326570.4:p.Arg312Leu", "hgvsWellDefined": "ENSP00000326570.4:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS746230", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.935G>T" }, "RefSeq": { "hgvs": "NM_024301.5:c.935G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Arg312Leu" }, "RefSeq": { "hgvs": "NP_077277.1:p.Arg312Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 1232, "referenceAllele": "G", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000318584.9:c.935G>T" ], "proteinEffect": { "hgvs": "ENSP00000326570.4:p.Arg312Leu", "hgvsWellDefined": "ENSP00000326570.4:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS257554" }, { "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "G", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000391909.7:c.935G>T" ], "proteinEffect": { "hgvs": "ENSP00000375776.2:p.Arg312Leu", "hgvsWellDefined": "ENSP00000375776.2:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS274819" }, { "coordinates": [ { "allele": "T", "end": 246, "endIntronDirection": "-", "endIntronOffset": 5447, "referenceAllele": "G", "start": 246, "startIntronDirection": "-", "startIntronOffset": 5448 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000597339.5:n.247-5448G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS395923" }, { "coordinates": [ { "allele": "T", "end": 247, "endIntronDirection": "+", "endIntronOffset": 7720, "referenceAllele": "G", "start": 247, "startIntronDirection": "+", "startIntronOffset": 7719 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000600646.5:n.247+7720G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS397379" }, { "@id": "http://reg.genome.network/allele/PA2825388482", "coordinates": [ { "allele": "T", "end": 1284, "referenceAllele": "G", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.2:c.935G>T" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Arg312Leu", "hgvsWellDefined": "NP_001034974.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS009459" }, { "@id": "http://reg.genome.network/allele/PA2573095625", "coordinates": [ { "allele": "T", "end": 1232, "referenceAllele": "G", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.4:c.935G>T" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Arg312Leu", "hgvsWellDefined": "NP_077277.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS037714" }, { "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "G", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.1:c.935G>T" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Arg312Leu", "hgvsWellDefined": "XP_005259304.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS062349" }, { "coordinates": [ { "allele": "T", "end": 1304, "referenceAllele": "G", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.1:c.935G>T" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Arg312Leu", "hgvsWellDefined": "XP_005259305.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS062350" }, { "coordinates": [ { "allele": "T", "end": 1282, "referenceAllele": "G", "start": 1281 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.3:c.935G>T" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Arg312Leu", "hgvsWellDefined": "XP_005259306.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS062351" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "G", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259250.3:c.935G>T" ], "proteinEffect": { "hgvs": "XP_005259307.1:p.Arg312Leu", "hgvsWellDefined": "XP_005259307.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS062352" }, { "coordinates": [ { "allele": "T", "end": 1626, "referenceAllele": "G", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527301.1:c.935G>T" ], "proteinEffect": { "hgvs": "XP_011525603.1:p.Arg312Leu", "hgvsWellDefined": "XP_011525603.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS094395" }, { "coordinates": [ { "allele": "T", "end": 1615, "referenceAllele": "G", "start": 1614 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527302.1:c.935G>T" ], "proteinEffect": { "hgvs": "XP_011525604.1:p.Arg312Leu", "hgvsWellDefined": "XP_011525604.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS094396" }, { "coordinates": [ { "allele": "T", "end": 1428, "referenceAllele": "G", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527303.1:c.935G>T" ], "proteinEffect": { "hgvs": "XP_011525605.1:p.Arg312Leu", "hgvsWellDefined": "XP_011525605.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS094397" }, { "coordinates": [ { "allele": "T", "end": 1366, "referenceAllele": "G", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527304.1:c.935G>T" ], "proteinEffect": { "hgvs": "XP_011525606.1:p.Arg312Leu", "hgvsWellDefined": "XP_011525606.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS094398" }, { "coordinates": [ { "allele": "T", "end": 1212, "referenceAllele": "G", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527305.1:c.935G>T" ], "proteinEffect": { "hgvs": "XP_011525607.1:p.Arg312Leu", "hgvsWellDefined": "XP_011525607.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS094399" }, { "coordinates": [ { "allele": "T", "end": 1081, "referenceAllele": "G", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.1:c.935G>T" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Arg312Leu", "hgvsWellDefined": "XP_011525608.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS094400" }, { "coordinates": [ { "allele": "T", "end": 1130, "referenceAllele": "G", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527307.1:c.935G>T" ], "proteinEffect": { "hgvs": "XP_011525609.1:p.Arg312Leu", "hgvsWellDefined": "XP_011525609.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS094401" }, { "coordinates": [ { "allele": "T", "end": 1345, "referenceAllele": "G", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.2:c.935G>T" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Arg312Leu", "hgvsWellDefined": "XP_005259304.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS534968" }, { "coordinates": [ { "allele": "T", "end": 1335, "referenceAllele": "G", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.2:c.935G>T" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Arg312Leu", "hgvsWellDefined": "XP_005259305.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS534969" }, { "coordinates": [ { "allele": "T", "end": 1277, "referenceAllele": "G", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.4:c.935G>T" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Arg312Leu", "hgvsWellDefined": "XP_005259306.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS534970" }, { "coordinates": [ { "allele": "T", "end": 1070, "referenceAllele": "G", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.2:c.935G>T" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Arg312Leu", "hgvsWellDefined": "XP_011525608.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS548617" }, { "coordinates": [ { "allele": "T", "end": 1440, "referenceAllele": "G", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_017027297.2:c.935G>T" ], "proteinEffect": { "hgvs": "XP_016882786.1:p.Arg312Leu", "hgvsWellDefined": "XP_016882786.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS577270" }, { "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "G", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_024451707.1:c.935G>T" ], "proteinEffect": { "hgvs": "XP_024307475.1:p.Arg312Leu", "hgvsWellDefined": "XP_024307475.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS585218" }, { "@id": "http://reg.genome.network/allele/PA2825388482", "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "G", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.3:c.935G>T" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Arg312Leu", "hgvsWellDefined": "NP_001034974.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS675931" }, { "@id": "http://reg.genome.network/allele/PA2573095625", "coordinates": [ { "allele": "T", "end": 1221, "referenceAllele": "G", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.5:c.935G>T" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Arg312Leu", "hgvsWellDefined": "NP_077277.1:p.Arg312Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS698678", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.935G>T" }, "RefSeq": { "hgvs": "NM_024301.5:c.935G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Arg312Leu" }, "RefSeq": { "hgvs": "NP_077277.1:p.Arg312Leu" } } } } ], "type": "nucleotide" }