{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374476383", "communityStandardTitle": [ "NM_005592.4(MUSK):c.1815G>T (p.Met605Ile)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.113550006G>T?assembly=hg19", "id": "chr9:g.113550006G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.110787726G>T?assembly=hg38", "id": "chr9:g.110787726G>T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 110787726, "referenceAllele": "G", "start": 110787725 } ], "hgvs": [ "NC_000009.12:g.110787726G>T", "CM000671.2:g.110787726G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 113550006, "referenceAllele": "G", "start": 113550005 } ], "hgvs": [ "NC_000009.11:g.113550006G>T", "CM000671.1:g.113550006G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 112589827, "referenceAllele": "G", "start": 112589826 } ], "hgvs": [ "NC_000009.10:g.112589827G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 123956, "referenceAllele": "G", "start": 123955 } ], "hgvs": [ "NG_016016.1:g.123956G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002957" }, { "coordinates": [ { "allele": "T", "end": 123936, "referenceAllele": "G", "start": 123935 } ], "hgvs": [ "NG_016016.2:g.123936G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706116" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1929, "referenceAllele": "G", "start": 1928 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000374448.9:c.1815G>T" ], "proteinEffect": { "hgvs": "ENSP00000363571.4:p.Met605Ile", "hgvsWellDefined": "ENSP00000363571.4:p.Met605Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS751439", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374448.9:c.1815G>T" }, "RefSeq": { "hgvs": "NM_005592.4:c.1815G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363571.4:p.Met605Ile" }, "RefSeq": { "hgvs": "NP_005583.1:p.Met605Ile" } } } }, { "coordinates": [ { "allele": "T", "end": 1603, "referenceAllele": "G", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000189978.10:c.1557G>T" ], "proteinEffect": { "hgvs": "ENSP00000189978.6:p.Met519Ile", "hgvsWellDefined": "ENSP00000189978.6:p.Met519Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS247722" }, { "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "G", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000374438.1:n.846G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS270244" }, { "coordinates": [ { "allele": "T", "end": 1603, "referenceAllele": "G", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000374440.7:c.1557G>T" ], "proteinEffect": { "hgvs": "ENSP00000363563.4:p.Met519Ile", "hgvsWellDefined": "ENSP00000363563.4:p.Met519Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS270246" }, { "coordinates": [ { "allele": "T", "end": 1949, "referenceAllele": "G", "start": 1948 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000374448.8:c.1815G>T" ], "proteinEffect": { "hgvs": "ENSP00000363571.4:p.Met605Ile", "hgvsWellDefined": "ENSP00000363571.4:p.Met605Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS270249" }, { "coordinates": [ { "allele": "T", "end": 1917, "referenceAllele": "G", "start": 1916 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000416899.7:c.1791G>T" ], "proteinEffect": { "hgvs": "ENSP00000393608.3:p.Met597Ile", "hgvsWellDefined": "ENSP00000393608.3:p.Met597Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS284670" }, { "@id": "http://reg.genome.network/allele/PA2826029192", "coordinates": [ { "allele": "T", "end": 1691, "referenceAllele": "G", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166280.1:c.1557G>T" ], "proteinEffect": { "hgvs": "NP_001159752.1:p.Met519Ile", "hgvsWellDefined": "NP_001159752.1:p.Met519Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS014857" }, { "@id": "http://reg.genome.network/allele/PA2826029656", "coordinates": [ { "allele": "T", "end": 1661, "referenceAllele": "G", "start": 1660 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166281.1:c.1527G>T" ], "proteinEffect": { "hgvs": "NP_001159753.1:p.Met509Ile", "hgvsWellDefined": "NP_001159753.1:p.Met509Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS014858" }, { "@id": "http://reg.genome.network/allele/PA104331", "coordinates": [ { "allele": "T", "end": 1949, "referenceAllele": "G", "start": 1948 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_005592.3:c.1815G>T" ], "proteinEffect": { "hgvs": "NP_005583.1:p.Met605Ile", "hgvsWellDefined": "NP_005583.1:p.Met605Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS030680" }, { "coordinates": [ { "allele": "T", "end": 2205, "referenceAllele": "G", "start": 2204 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251994.2:c.1845G>T" ], "proteinEffect": { "hgvs": "XP_005252051.1:p.Met615Ile", "hgvsWellDefined": "XP_005252051.1:p.Met615Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS059776" }, { "coordinates": [ { "allele": "T", "end": 2180, "referenceAllele": "G", "start": 2179 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251995.2:c.1821G>T" ], "proteinEffect": { "hgvs": "XP_005252052.1:p.Met607Ile", "hgvsWellDefined": "XP_005252052.1:p.Met607Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS059777" }, { "coordinates": [ { "allele": "T", "end": 2150, "referenceAllele": "G", "start": 2149 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251996.2:c.1791G>T" ], "proteinEffect": { "hgvs": "XP_005252053.1:p.Met597Ile", "hgvsWellDefined": "XP_005252053.1:p.Met597Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS059778" }, { "coordinates": [ { "allele": "T", "end": 2235, "referenceAllele": "G", "start": 2234 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_011518707.1:c.1875G>T" ], "proteinEffect": { "hgvs": "XP_011517009.1:p.Met625Ile", "hgvsWellDefined": "XP_011517009.1:p.Met625Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS085881" }, { "coordinates": [ { "allele": "T", "end": 694, "referenceAllele": "G", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_011518708.1:c.579G>T" ], "proteinEffect": { "hgvs": "XP_011517010.1:p.Met193Ile", "hgvsWellDefined": "XP_011517010.1:p.Met193Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS085882" }, { "coordinates": [ { "allele": "T", "end": 2561, "referenceAllele": "G", "start": 2560 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251994.3:c.1845G>T" ], "proteinEffect": { "hgvs": "XP_005252051.1:p.Met615Ile", "hgvsWellDefined": "XP_005252051.1:p.Met615Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS533724" }, { "coordinates": [ { "allele": "T", "end": 2536, "referenceAllele": "G", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251995.3:c.1821G>T" ], "proteinEffect": { "hgvs": "XP_005252052.1:p.Met607Ile", "hgvsWellDefined": "XP_005252052.1:p.Met607Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS533725" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "G", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251996.3:c.1791G>T" ], "proteinEffect": { "hgvs": "XP_005252053.1:p.Met597Ile", "hgvsWellDefined": "XP_005252053.1:p.Met597Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS533726" }, { "coordinates": [ { "allele": "T", "end": 694, "referenceAllele": "G", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_011518708.2:c.579G>T" ], "proteinEffect": { "hgvs": "XP_011517010.1:p.Met193Ile", "hgvsWellDefined": "XP_011517010.1:p.Met193Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS545042" }, { "coordinates": [ { "allele": "T", "end": 2297, "referenceAllele": "G", "start": 2296 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_017014734.1:c.1581G>T" ], "proteinEffect": { "hgvs": "XP_016870223.1:p.Met527Ile", "hgvsWellDefined": "XP_016870223.1:p.Met527Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS567617" }, { "@id": "http://reg.genome.network/allele/PA2826029192", "coordinates": [ { "allele": "T", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166280.2:c.1557G>T" ], "proteinEffect": { "hgvs": "NP_001159752.1:p.Met519Ile", "hgvsWellDefined": "NP_001159752.1:p.Met519Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS678482" }, { "@id": "http://reg.genome.network/allele/PA2826029656", "coordinates": [ { "allele": "T", "end": 1641, "referenceAllele": "G", "start": 1640 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166281.2:c.1527G>T" ], "proteinEffect": { "hgvs": "NP_001159753.1:p.Met509Ile", "hgvsWellDefined": "NP_001159753.1:p.Met509Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS678483" }, { "@id": "http://reg.genome.network/allele/PA2828328645", "coordinates": [ { "allele": "T", "end": 1197, "referenceAllele": "G", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001369398.1:c.555G>T" ], "proteinEffect": { "hgvs": "NP_001356327.1:p.Met185Ile", "hgvsWellDefined": "NP_001356327.1:p.Met185Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS691623" }, { "@id": "http://reg.genome.network/allele/PA104331", "coordinates": [ { "allele": "T", "end": 1929, "referenceAllele": "G", "start": 1928 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_005592.4:c.1815G>T" ], "proteinEffect": { "hgvs": "NP_005583.1:p.Met605Ile", "hgvsWellDefined": "NP_005583.1:p.Met605Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS696468", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374448.9:c.1815G>T" }, "RefSeq": { "hgvs": "NM_005592.4:c.1815G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363571.4:p.Met605Ile" }, "RefSeq": { "hgvs": "NP_005583.1:p.Met605Ile" } } } } ], "type": "nucleotide" }