{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA355331433", "communityStandardTitle": [ "NM_020166.5(MCCC1):c.382G>A (p.Gly128Arg)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.182790263C>T?assembly=hg19", "id": "chr3:g.182790263C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.183072475C>T?assembly=hg38", "id": "chr3:g.183072475C>T" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 183072475, "referenceAllele": "C", "start": 183072474 } ], "hgvs": [ "NC_000003.12:g.183072475C>T", "CM000665.2:g.183072475C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 182790263, "referenceAllele": "C", "start": 182790262 } ], "hgvs": [ "NC_000003.11:g.182790263C>T", "CM000665.1:g.182790263C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 184272957, "referenceAllele": "C", "start": 184272956 } ], "hgvs": [ "NC_000003.10:g.184272957C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 32103, "referenceAllele": "G", "start": 32102 } ], "hgvs": [ "NG_008100.1:g.32103G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000845" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 438, "referenceAllele": "G", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000265594.9:c.382G>A" ], "proteinEffect": { "hgvs": "ENSP00000265594.4:p.Gly128Arg", "hgvsWellDefined": "ENSP00000265594.4:p.Gly128Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS742855", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265594.9:c.382G>A" }, "RefSeq": { "hgvs": "NM_020166.5:c.382G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265594.4:p.Gly128Arg" }, "RefSeq": { "hgvs": "NP_064551.3:p.Gly128Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000265594.8:c.382G>A" ], "proteinEffect": { "hgvs": "ENSP00000265594.4:p.Gly128Arg", "hgvsWellDefined": "ENSP00000265594.4:p.Gly128Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS251776" }, { "coordinates": [ { "allele": "A", "end": 322, "endIntronDirection": "-", "endIntronOffset": 1117, "referenceAllele": "G", "start": 322, "startIntronDirection": "-", "startIntronOffset": 1118 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000466650.5:c.*89-1118G>A" ], "proteinEffect": { "hgvs": "ENSP00000418979.1:n.*89-1118G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS309968" }, { "coordinates": [ { "allele": "A", "end": 351, "referenceAllele": "G", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000476176.5:c.241G>A" ], "proteinEffect": { "hgvs": "ENSP00000420433.1:p.Gly81Arg", "hgvsWellDefined": "ENSP00000420433.1:p.Gly81Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS317298" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000486226.1:c.*139G>A" ], "proteinEffect": { "hgvs": "ENSP00000420223.1:n.*139G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS325082" }, { "coordinates": [ { "allele": "A", "end": 227, "referenceAllele": "G", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000487634.5:c.149G>A" ], "proteinEffect": { "hgvs": "ENSP00000420591.1:p.Arg50Lys", "hgvsWellDefined": "ENSP00000420591.1:p.Arg50Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS326154" }, { "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000490284.5:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000419328.1:p.Gln34=" }, "referenceSequence": "http://reg.genome.network/refseq/RS328149" }, { "coordinates": [ { "allele": "A", "end": 758, "referenceAllele": "G", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000492597.5:c.55G>A" ], "proteinEffect": { "hgvs": "ENSP00000419898.1:p.Gly19Arg", "hgvsWellDefined": "ENSP00000419898.1:p.Gly19Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS329943" }, { "coordinates": [ { "allele": "A", "end": 227, "referenceAllele": "G", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000495767.5:c.149G>A" ], "proteinEffect": { "hgvs": "ENSP00000419658.1:p.Arg50Lys", "hgvsWellDefined": "ENSP00000419658.1:p.Arg50Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS332401" }, { "coordinates": [ { "allele": "A", "end": 322, "endIntronDirection": "-", "endIntronOffset": 1117, "referenceAllele": "G", "start": 322, "startIntronDirection": "-", "startIntronOffset": 1118 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497830.5:c.*89-1118G>A" ], "proteinEffect": { "hgvs": "ENSP00000420088.1:n.*89-1118G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS333972" }, { "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497959.5:c.268G>A" ], "proteinEffect": { "hgvs": "ENSP00000420648.1:p.Gly90Arg", "hgvsWellDefined": "ENSP00000420648.1:p.Gly90Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS334071" }, { "coordinates": [ { "allele": "A", "end": 252, "endIntronDirection": "-", "endIntronOffset": 1117, "referenceAllele": "G", "start": 252, "startIntronDirection": "-", "startIntronOffset": 1118 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000539926.5:c.43-1118G>A" ], "proteinEffect": { "hgvs": "ENSP00000441253.2:n.43-1118G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS362129" }, { "coordinates": [ { "allele": "A", "end": 506, "endIntronDirection": "-", "endIntronOffset": 1117, "referenceAllele": "G", "start": 506, "startIntronDirection": "-", "startIntronOffset": 1118 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000610757.4:c.43-1118G>A" ], "proteinEffect": { "hgvs": "ENSP00000480435.1:n.43-1118G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS400560" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000629669.2:c.268G>A" ], "proteinEffect": { "hgvs": "ENSP00000486824.1:p.Gly90Arg", "hgvsWellDefined": "ENSP00000486824.1:p.Gly90Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS407257" }, { "coordinates": [ { "allele": "A", "end": 379, "endIntronDirection": "-", "endIntronOffset": 1117, "referenceAllele": "G", "start": 379, "startIntronDirection": "-", "startIntronOffset": 1118 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001293273.1:c.141-1118G>A" ], "proteinEffect": { "hgvs": "NP_001280202.1:n.141-1118G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024520" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_020166.4:c.382G>A" ], "proteinEffect": { "hgvs": "NP_064551.3:p.Gly128Arg", "hgvsWellDefined": "NP_064551.3:p.Gly128Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS036231" }, { "coordinates": [ { "allele": "A", "end": 296, "referenceAllele": "G", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120639.1:n.296G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS055514" }, { "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120640.1:n.1049G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS055515" }, { "coordinates": [ { "allele": "A", "end": 335, "referenceAllele": "G", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_006713702.1:c.55G>A" ], "proteinEffect": { "hgvs": "XP_006713765.1:p.Gly19Arg", "hgvsWellDefined": "XP_006713765.1:p.Gly19Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS070312" }, { "coordinates": [ { "allele": "A", "end": 1081, "referenceAllele": "G", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512992.1:c.268G>A" ], "proteinEffect": { "hgvs": "XP_011511294.1:p.Gly90Arg", "hgvsWellDefined": "XP_011511294.1:p.Gly90Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS080247" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512993.1:c.382G>A" ], "proteinEffect": { "hgvs": "XP_011511295.1:p.Gly128Arg", "hgvsWellDefined": "XP_011511295.1:p.Gly128Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS080248" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_241502.2:n.529G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116060" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_924159.1:n.529G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121219" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001363880.1:c.55G>A" ], "proteinEffect": { "hgvs": "NP_001350809.1:p.Gly19Arg", "hgvsWellDefined": "NP_001350809.1:p.Gly19Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS523624" }, { "coordinates": [ { "allele": "A", "end": 1127, "referenceAllele": "G", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512992.2:c.268G>A" ], "proteinEffect": { "hgvs": "XP_011511294.1:p.Gly90Arg", "hgvsWellDefined": "XP_011511294.1:p.Gly90Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS542749" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740207.2:n.505G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590430" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740208.2:n.505G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590431" }, { "coordinates": [ { "allele": "A", "end": 475, "referenceAllele": "G", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740209.2:n.475G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590432" }, { "coordinates": [ { "allele": "A", "end": 335, "referenceAllele": "G", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740210.1:n.335G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590433" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_002959553.1:n.505G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS605485" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_002959554.1:n.505G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS605486" }, { "coordinates": [ { "allele": "A", "end": 475, "referenceAllele": "G", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_241502.3:n.475G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS605840" }, { "coordinates": [ { "allele": "A", "end": 438, "referenceAllele": "G", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_020166.5:c.382G>A" ], "proteinEffect": { "hgvs": "NP_064551.3:p.Gly128Arg", "hgvsWellDefined": "NP_064551.3:p.Gly128Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS669908", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265594.9:c.382G>A" }, "RefSeq": { "hgvs": "NM_020166.5:c.382G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265594.4:p.Gly128Arg" }, "RefSeq": { "hgvs": "NP_064551.3:p.Gly128Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 288, "endIntronDirection": "-", "endIntronOffset": 1117, "referenceAllele": "G", "start": 288, "startIntronDirection": "-", "startIntronOffset": 1118 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001293273.2:c.141-1118G>A" ], "proteinEffect": { "hgvs": "NP_001280202.1:n.141-1118G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716765" }, { "coordinates": [ { "allele": "A", "end": 205, "referenceAllele": "G", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120639.2:n.205G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730741" }, { "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120640.2:n.1049G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730742" } ], "type": "nucleotide" }