{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA339954826", "communityStandardTitle": [ "NM_022356.4(P3H1):c.1647G>T (p.Met549Ile)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.43215930C>A?assembly=hg19", "id": "chr1:g.43215930C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.42750259C>A?assembly=hg38", "id": "chr1:g.42750259C>A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 42750259, "referenceAllele": "C", "start": 42750258 } ], "hgvs": [ "NC_000001.11:g.42750259C>A", "CM000663.2:g.42750259C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 43215930, "referenceAllele": "C", "start": 43215929 } ], "hgvs": [ "NC_000001.10:g.43215930C>A", "CM000663.1:g.43215930C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 42988517, "referenceAllele": "C", "start": 42988516 } ], "hgvs": [ "NC_000001.9:g.42988517C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 21826, "referenceAllele": "G", "start": 21825 } ], "hgvs": [ "NG_008123.1:g.21826G>T", "LRG_5:g.21826G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000868" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1704, "referenceAllele": "G", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000296388.10:c.1647G>T" ], "proteinEffect": { "hgvs": "ENSP00000296388.5:p.Met549Ile", "hgvsWellDefined": "ENSP00000296388.5:p.Met549Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS744408", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000296388.10:c.1647G>T" }, "RefSeq": { "hgvs": "NM_022356.4:c.1647G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000296388.5:p.Met549Ile" }, "RefSeq": { "hgvs": "NP_071751.3:p.Met549Ile" } } } }, { "coordinates": [ { "allele": "T", "end": 1688, "referenceAllele": "G", "start": 1687 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000236040.8:c.1647G>T" ], "proteinEffect": { "hgvs": "ENSP00000236040.4:p.Met549Ile", "hgvsWellDefined": "ENSP00000236040.4:p.Met549Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS248959" }, { "coordinates": [ { "allele": "T", "end": 1699, "referenceAllele": "G", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000296388.9:c.1647G>T" ], "proteinEffect": { "hgvs": "ENSP00000296388.5:p.Met549Ile", "hgvsWellDefined": "ENSP00000296388.5:p.Met549Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS254287" }, { "coordinates": [ { "allele": "T", "end": 1760, "referenceAllele": "G", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000397054.7:c.1647G>T" ], "proteinEffect": { "hgvs": "ENSP00000380245.3:p.Met549Ile", "hgvsWellDefined": "ENSP00000380245.3:p.Met549Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS277579" }, { "coordinates": [ { "allele": "T", "end": 569, "referenceAllele": "G", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000431412.3:c.569G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS291606" }, { "coordinates": [ { "allele": "T", "end": 1839, "referenceAllele": "G", "start": 1838 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000460031.5:n.1839G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS304863" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000481465.3:n.370G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321369" }, { "coordinates": [ { "allele": "T", "end": 1927, "referenceAllele": "G", "start": 1926 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "ENST00000495874.5:n.1927G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332482" }, { "@id": "http://reg.genome.network/allele/PA2825929369", "coordinates": [ { "allele": "T", "end": 1760, "referenceAllele": "G", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001146289.1:c.1647G>T", "LRG_5t2:c.1647G>T" ], "proteinEffect": { "hgvs": "NP_001139761.1:p.Met549Ile", "hgvsWellDefined": "NP_001139761.1:p.Met549Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS013945" }, { "@id": "http://reg.genome.network/allele/PA2826323780", "coordinates": [ { "allele": "T", "end": 1760, "referenceAllele": "G", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001243246.1:c.1647G>T", "LRG_5t3:c.1647G>T" ], "proteinEffect": { "hgvs": "NP_001230175.1:p.Met549Ile", "hgvsWellDefined": "NP_001230175.1:p.Met549Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS018465" }, { "@id": "http://reg.genome.network/allele/PA645426026", "coordinates": [ { "allele": "T", "end": 1760, "referenceAllele": "G", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_022356.3:c.1647G>T", "LRG_5t1:c.1647G>T" ], "proteinEffect": { "hgvs": "NP_071751.3:p.Met549Ile", "hgvsWellDefined": "NP_071751.3:p.Met549Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS037284" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "G", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_005271110.2:c.639G>T" ], "proteinEffect": { "hgvs": "XP_005271167.1:p.Met213Ile", "hgvsWellDefined": "XP_005271167.1:p.Met213Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS066770" }, { "coordinates": [ { "allele": "T", "end": 1206, "referenceAllele": "G", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541947.1:c.672G>T" ], "proteinEffect": { "hgvs": "XP_011540249.1:p.Met224Ile", "hgvsWellDefined": "XP_011540249.1:p.Met224Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS108881" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "G", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541948.1:c.672G>T" ], "proteinEffect": { "hgvs": "XP_011540250.1:p.Met224Ile", "hgvsWellDefined": "XP_011540250.1:p.Met224Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS108882" }, { "coordinates": [ { "allele": "T", "end": 1203, "referenceAllele": "G", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_011541949.1:c.669G>T" ], "proteinEffect": { "hgvs": "XP_011540251.1:p.Met223Ile", "hgvsWellDefined": "XP_011540251.1:p.Met223Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS108883" }, { "coordinates": [ { "allele": "T", "end": 1756, "referenceAllele": "G", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_017002051.2:c.672G>T" ], "proteinEffect": { "hgvs": "XP_016857540.1:p.Met224Ile", "hgvsWellDefined": "XP_016857540.1:p.Met224Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS558080" }, { "coordinates": [ { "allele": "T", "end": 1718, "referenceAllele": "G", "start": 1717 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XM_017002052.2:c.669G>T" ], "proteinEffect": { "hgvs": "XP_016857541.1:p.Met223Ile", "hgvsWellDefined": "XP_016857541.1:p.Met223Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS558081" }, { "coordinates": [ { "allele": "T", "end": 1772, "referenceAllele": "G", "start": 1771 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "XR_946739.2:n.1772G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614447" }, { "@id": "http://reg.genome.network/allele/PA645426026", "coordinates": [ { "allele": "T", "end": 1704, "referenceAllele": "G", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_022356.4:c.1647G>T" ], "proteinEffect": { "hgvs": "NP_071751.3:p.Met549Ile", "hgvsWellDefined": "NP_071751.3:p.Met549Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS698530", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000296388.10:c.1647G>T" }, "RefSeq": { "hgvs": "NM_022356.4:c.1647G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000296388.5:p.Met549Ile" }, "RefSeq": { "hgvs": "NP_071751.3:p.Met549Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2825929369", "coordinates": [ { "allele": "T", "end": 1704, "referenceAllele": "G", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001146289.2:c.1647G>T" ], "proteinEffect": { "hgvs": "NP_001139761.1:p.Met549Ile", "hgvsWellDefined": "NP_001139761.1:p.Met549Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS712912" }, { "@id": "http://reg.genome.network/allele/PA2826323780", "coordinates": [ { "allele": "T", "end": 1704, "referenceAllele": "G", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN019316", "geneNCBI_id": 64175, "geneSymbol": "P3H1", "hgvs": [ "NM_001243246.2:c.1647G>T" ], "proteinEffect": { "hgvs": "NP_001230175.1:p.Met549Ile", "hgvsWellDefined": "NP_001230175.1:p.Met549Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS714457" } ], "type": "nucleotide" }