{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA278713", "communityStandardTitle": [ "NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52505[alleleid]", "alleleId": 52505, "preferredName": "NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43335", "RCV": [ "RCV000036241", "RCV000675126", "RCV001275540" ], "variationId": 43335 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-76925653-G-A", "id": "11-76925653-G-A", "variant": "11:76925653 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.76925653G>A?assembly=hg19", "id": "chr11:g.76925653G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.77214608G>A?assembly=hg38", "id": "chr11:g.77214608G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397516332", "rs": 397516332 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-76925653-G-A?dataset=gnomad_r2_1", "id": "11-76925653-G-A", "variant": "11:76925653 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-77214608-G-A?dataset=gnomad_r4", "id": "11-77214608-G-A", "variant": "11:77214608 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 77214608, "referenceAllele": "G", "start": 77214607 } ], "hgvs": [ "NC_000011.10:g.77214608G>A", "CM000673.2:g.77214608G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 76925653, "referenceAllele": "G", "start": 76925652 } ], "hgvs": [ "NC_000011.9:g.76925653G>A", "CM000673.1:g.76925653G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 76603301, "referenceAllele": "G", "start": 76603300 } ], "hgvs": [ "NC_000011.8:g.76603301G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 91344, "referenceAllele": "G", "start": 91343 } ], "hgvs": [ "NG_009086.1:g.91344G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001419" }, { "coordinates": [ { "allele": "A", "end": 91363, "referenceAllele": "G", "start": 91362 } ], "hgvs": [ "NG_009086.2:g.91363G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706092" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 6850, "referenceAllele": "G", "start": 6849 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.9:c.6560G>A" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Gly2187Asp", "hgvsWellDefined": "ENSP00000386331.3:p.Gly2187Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS754325", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.6560G>A" }, "RefSeq": { "hgvs": "NM_000260.4:c.6560G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Gly2187Asp" }, "RefSeq": { "hgvs": "NP_000251.3:p.Gly2187Asp" } } } }, { "coordinates": [ { "allele": "A", "end": 4361, "referenceAllele": "G", "start": 4360 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000670577.1:c.4361G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773106" }, { "coordinates": [ { "allele": "A", "end": 6760, "referenceAllele": "G", "start": 6759 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409619.6:c.6413G>A" ], "proteinEffect": { "hgvs": "ENSP00000386635.2:p.Gly2138Asp", "hgvsWellDefined": "ENSP00000386635.2:p.Gly2138Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS281706" }, { "coordinates": [ { "allele": "A", "end": 6832, "referenceAllele": "G", "start": 6831 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.7:c.6560G>A" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Gly2187Asp", "hgvsWellDefined": "ENSP00000386331.3:p.Gly2187Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS281784" }, { "coordinates": [ { "allele": "A", "end": 3986, "referenceAllele": "G", "start": 3985 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000458169.2:c.3986G>A" ], "proteinEffect": { "hgvs": "ENSP00000417017.2:p.Gly1329Asp", "hgvsWellDefined": "ENSP00000417017.2:p.Gly1329Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS304279" }, { "coordinates": [ { "allele": "A", "end": 6706, "referenceAllele": "G", "start": 6705 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000458637.6:c.6440G>A" ], "proteinEffect": { "hgvs": "ENSP00000392185.2:p.Gly2147Asp", "hgvsWellDefined": "ENSP00000392185.2:p.Gly2147Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS304499" }, { "coordinates": [ { "allele": "A", "end": 5110, "referenceAllele": "G", "start": 5109 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000481328.7:n.5110G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321269" }, { "coordinates": [ { "allele": "A", "end": 2074, "referenceAllele": "G", "start": 2073 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000605744.1:n.2074G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS399561" }, { "@id": "http://reg.genome.network/allele/PA099545", "coordinates": [ { "allele": "A", "end": 6832, "referenceAllele": "G", "start": 6831 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.3:c.6560G>A" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Gly2187Asp", "hgvsWellDefined": "NP_000251.3:p.Gly2187Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS006322" }, { "@id": "http://reg.genome.network/allele/PA2825628213", "coordinates": [ { "allele": "A", "end": 6706, "referenceAllele": "G", "start": 6705 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.1:c.6440G>A" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Gly2147Asp", "hgvsWellDefined": "NP_001120652.1:p.Gly2147Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS011524" }, { "coordinates": [ { "allele": "A", "end": 6761, "referenceAllele": "G", "start": 6760 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_005274012.2:c.6443G>A" ], "proteinEffect": { "hgvs": "XP_005274069.1:p.Gly2148Asp", "hgvsWellDefined": "XP_005274069.1:p.Gly2148Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS067798" }, { "coordinates": [ { "allele": "A", "end": 6764, "referenceAllele": "G", "start": 6763 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718561.2:c.6446G>A" ], "proteinEffect": { "hgvs": "XP_006718624.1:p.Gly2149Asp", "hgvsWellDefined": "XP_006718624.1:p.Gly2149Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS072698" }, { "coordinates": [ { "allele": "A", "end": 6854, "referenceAllele": "G", "start": 6853 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949941.1:n.6854G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143252" }, { "coordinates": [ { "allele": "A", "end": 6665, "referenceAllele": "G", "start": 6664 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017780.1:c.6650G>A" ], "proteinEffect": { "hgvs": "XP_016873269.1:p.Gly2217Asp", "hgvsWellDefined": "XP_016873269.1:p.Gly2217Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS569888" }, { "coordinates": [ { "allele": "A", "end": 6548, "referenceAllele": "G", "start": 6547 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017784.1:c.6533G>A" ], "proteinEffect": { "hgvs": "XP_016873273.1:p.Gly2178Asp", "hgvsWellDefined": "XP_016873273.1:p.Gly2178Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS569892" }, { "coordinates": [ { "allele": "A", "end": 6551, "referenceAllele": "G", "start": 6550 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017788.1:c.6536G>A" ], "proteinEffect": { "hgvs": "XP_016873277.1:p.Gly2179Asp", "hgvsWellDefined": "XP_016873277.1:p.Gly2179Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS569896" }, { "coordinates": [ { "allele": "A", "end": 6639, "referenceAllele": "G", "start": 6638 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747885.1:n.6639G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595975" }, { "coordinates": [ { "allele": "A", "end": 6625, "referenceAllele": "G", "start": 6624 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747887.1:n.6625G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595977" }, { "@id": "http://reg.genome.network/allele/PA099545", "coordinates": [ { "allele": "A", "end": 6850, "referenceAllele": "G", "start": 6849 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.4:c.6560G>A" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Gly2187Asp", "hgvsWellDefined": "NP_000251.3:p.Gly2187Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS662373", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.6560G>A" }, "RefSeq": { "hgvs": "NM_000260.4:c.6560G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Gly2187Asp" }, "RefSeq": { "hgvs": "NP_000251.3:p.Gly2187Asp" } } } }, { "@id": "http://reg.genome.network/allele/PA2825628213", "coordinates": [ { "allele": "A", "end": 6730, "referenceAllele": "G", "start": 6729 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.2:c.6440G>A" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Gly2147Asp", "hgvsWellDefined": "NP_001120652.1:p.Gly2147Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS676839" }, { "@id": "http://reg.genome.network/allele/PA2828321788", "coordinates": [ { "allele": "A", "end": 6816, "referenceAllele": "G", "start": 6815 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001369365.1:c.6413G>A" ], "proteinEffect": { "hgvs": "NP_001356294.1:p.Gly2138Asp", "hgvsWellDefined": "NP_001356294.1:p.Gly2138Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS691590" } ], "type": "nucleotide" }