{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA376858850", "communityStandardTitle": [ "NM_032578.4(MYPN):c.3286G>A (p.Val1096Met)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.69959125G>A?assembly=hg19", "id": "chr10:g.69959125G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.68199368G>A?assembly=hg38", "id": "chr10:g.68199368G>A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 68199368, "referenceAllele": "G", "start": 68199367 } ], "hgvs": [ "NC_000010.11:g.68199368G>A", "CM000672.2:g.68199368G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 69959125, "referenceAllele": "G", "start": 69959124 } ], "hgvs": [ "NC_000010.10:g.69959125G>A", "CM000672.1:g.69959125G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 69629131, "referenceAllele": "G", "start": 69629130 } ], "hgvs": [ "NC_000010.9:g.69629131G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 98252, "referenceAllele": "G", "start": 98251 } ], "hgvs": [ "NG_032118.1:g.98252G>A", "LRG_410:g.98252G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005131" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2711, "referenceAllele": "G", "start": 2710 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000354393.7:c.2461G>A" ], "proteinEffect": { "hgvs": "ENSP00000346369.2:p.Val821Met", "hgvsWellDefined": "ENSP00000346369.2:p.Val821Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS824072" }, { "coordinates": [ { "allele": "A", "end": 3341, "referenceAllele": "G", "start": 3340 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000540630.6:c.3340G>A" ], "proteinEffect": { "hgvs": "ENSP00000441668.3:p.Val1114Met", "hgvsWellDefined": "ENSP00000441668.3:p.Val1114Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS825912" }, { "coordinates": [ { "allele": "A", "end": 3467, "referenceAllele": "G", "start": 3466 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000613327.5:c.3286G>A" ], "proteinEffect": { "hgvs": "ENSP00000480757.2:p.Val1096Met", "hgvsWellDefined": "ENSP00000480757.2:p.Val1096Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS826438" }, { "coordinates": [ { "allele": "A", "end": 3177, "referenceAllele": "G", "start": 3176 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000688812.1:c.*549G>A" ], "proteinEffect": { "hgvs": "ENSP00000510658.1:n.*549G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831833" }, { "coordinates": [ { "allele": "A", "end": 3644, "referenceAllele": "G", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000690544.1:c.*2557G>A" ], "proteinEffect": { "hgvs": "ENSP00000508989.1:n.*2557G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832754" }, { "coordinates": [ { "allele": "A", "end": 3523, "referenceAllele": "G", "start": 3522 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000358913.10:c.3286G>A" ], "proteinEffect": { "hgvs": "ENSP00000351790.5:p.Val1096Met", "hgvsWellDefined": "ENSP00000351790.5:p.Val1096Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS749135", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358913.10:c.3286G>A" }, "RefSeq": { "hgvs": "NM_032578.4:c.3286G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351790.5:p.Val1096Met" }, "RefSeq": { "hgvs": "NP_115967.2:p.Val1096Met" } } } }, { "coordinates": [ { "allele": "A", "end": 2675, "referenceAllele": "G", "start": 2674 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000354393.6:c.2461G>A" ], "proteinEffect": { "hgvs": "ENSP00000346369.2:p.Val821Met", "hgvsWellDefined": "ENSP00000346369.2:p.Val821Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS263107" }, { "coordinates": [ { "allele": "A", "end": 3774, "referenceAllele": "G", "start": 3773 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000358913.9:c.3286G>A" ], "proteinEffect": { "hgvs": "ENSP00000351790.5:p.Val1096Met", "hgvsWellDefined": "ENSP00000351790.5:p.Val1096Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS264620" }, { "coordinates": [ { "allele": "A", "end": 3473, "referenceAllele": "G", "start": 3472 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000540630.5:c.3286G>A" ], "proteinEffect": { "hgvs": "ENSP00000441668.2:p.Val1096Met", "hgvsWellDefined": "ENSP00000441668.2:p.Val1096Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS362505" }, { "coordinates": [ { "allele": "A", "end": 3882, "referenceAllele": "G", "start": 3881 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000613327.4:c.2404G>A" ], "proteinEffect": { "hgvs": "ENSP00000480757.1:p.Val802Met", "hgvsWellDefined": "ENSP00000480757.1:p.Val802Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS401701" }, { "coordinates": [ { "allele": "A", "end": 3473, "referenceAllele": "G", "start": 3472 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_001256267.1:c.3286G>A" ], "proteinEffect": { "hgvs": "NP_001243196.1:p.Val1096Met", "hgvsWellDefined": "NP_001243196.1:p.Val1096Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS019149" }, { "coordinates": [ { "allele": "A", "end": 3882, "referenceAllele": "G", "start": 3881 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_001256268.1:c.2404G>A" ], "proteinEffect": { "hgvs": "NP_001243197.1:p.Val802Met", "hgvsWellDefined": "NP_001243197.1:p.Val802Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS019150" }, { "coordinates": [ { "allele": "A", "end": 3578, "referenceAllele": "G", "start": 3577 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_032578.3:c.3286G>A", "LRG_410t1:c.3286G>A" ], "proteinEffect": { "hgvs": "NP_115967.2:p.Val1096Met", "hgvsWellDefined": "NP_115967.2:p.Val1096Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS039193" }, { "coordinates": [ { "allele": "A", "end": 2713, "referenceAllele": "G", "start": 2712 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NR_045662.3:n.2713G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS051384" }, { "coordinates": [ { "allele": "A", "end": 3415, "referenceAllele": "G", "start": 3414 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NR_045663.3:n.3415G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS051385" }, { "coordinates": [ { "allele": "A", "end": 3562, "referenceAllele": "G", "start": 3561 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "XM_006718043.2:c.3340G>A" ], "proteinEffect": { "hgvs": "XP_006718106.1:p.Val1114Met", "hgvsWellDefined": "XP_006718106.1:p.Val1114Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS072449" }, { "coordinates": [ { "allele": "A", "end": 3317, "referenceAllele": "G", "start": 3316 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "XM_011540292.1:c.3316G>A" ], "proteinEffect": { "hgvs": "XP_011538594.1:p.Val1106Met", "hgvsWellDefined": "XP_011538594.1:p.Val1106Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS107240" }, { "coordinates": [ { "allele": "T", "end": 1803, "endIntronDirection": "-", "endIntronOffset": 92, "referenceAllele": "C", "start": 1803, "startIntronDirection": "-", "startIntronOffset": 93 } ], "hgvs": [ "XR_946029.1:n.1804-93C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS139617" }, { "coordinates": [ { "allele": "A", "end": 3914, "referenceAllele": "G", "start": 3913 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "XM_017016833.1:c.3364G>A" ], "proteinEffect": { "hgvs": "XP_016872322.1:p.Val1122Met", "hgvsWellDefined": "XP_016872322.1:p.Val1122Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS569151" }, { "coordinates": [ { "allele": "A", "end": 3373, "referenceAllele": "G", "start": 3372 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "XM_017016834.2:c.3286G>A" ], "proteinEffect": { "hgvs": "XP_016872323.1:p.Val1096Met", "hgvsWellDefined": "XP_016872323.1:p.Val1096Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS569152" }, { "coordinates": [ { "allele": "A", "end": 2600, "referenceAllele": "G", "start": 2599 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "XM_024448236.1:c.2164G>A" ], "proteinEffect": { "hgvs": "XP_024304004.1:p.Val722Met", "hgvsWellDefined": "XP_024304004.1:p.Val722Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS581816" }, { "coordinates": [ { "allele": "A", "end": 2823, "referenceAllele": "G", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NR_045662.4:n.2823G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702392" }, { "coordinates": [ { "allele": "A", "end": 3360, "referenceAllele": "G", "start": 3359 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NR_045663.4:n.3360G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702393" }, { "coordinates": [ { "allele": "A", "end": 3583, "referenceAllele": "G", "start": 3582 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_001256267.2:c.3286G>A" ], "proteinEffect": { "hgvs": "NP_001243196.1:p.Val1096Met", "hgvsWellDefined": "NP_001243196.1:p.Val1096Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS714731" }, { "coordinates": [ { "allele": "A", "end": 3827, "referenceAllele": "G", "start": 3826 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_001256268.2:c.2404G>A" ], "proteinEffect": { "hgvs": "NP_001243197.1:p.Val802Met", "hgvsWellDefined": "NP_001243197.1:p.Val802Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS714732" }, { "coordinates": [ { "allele": "A", "end": 3523, "referenceAllele": "G", "start": 3522 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_032578.4:c.3286G>A" ], "proteinEffect": { "hgvs": "NP_115967.2:p.Val1096Met", "hgvsWellDefined": "NP_115967.2:p.Val1096Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS728857", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358913.10:c.3286G>A" }, "RefSeq": { "hgvs": "NM_032578.4:c.3286G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351790.5:p.Val1096Met" }, "RefSeq": { "hgvs": "NP_115967.2:p.Val1096Met" } } } } ], "type": "nucleotide" }