{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA376859052", "communityStandardTitle": [ "NM_032578.4(MYPN):c.3344C>A (p.Pro1115Gln)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.69959183C>A?assembly=hg19", "id": "chr10:g.69959183C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.68199426C>A?assembly=hg38", "id": "chr10:g.68199426C>A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 68199426, "referenceAllele": "C", "start": 68199425 } ], "hgvs": [ "NC_000010.11:g.68199426C>A", "CM000672.2:g.68199426C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 69959183, "referenceAllele": "C", "start": 69959182 } ], "hgvs": [ "NC_000010.10:g.69959183C>A", "CM000672.1:g.69959183C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 69629189, "referenceAllele": "C", "start": 69629188 } ], "hgvs": [ "NC_000010.9:g.69629189C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 98310, "referenceAllele": "C", "start": 98309 } ], "hgvs": [ "NG_032118.1:g.98310C>A", "LRG_410:g.98310C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005131" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2769, "referenceAllele": "C", "start": 2768 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000354393.7:c.2519C>A" ], "proteinEffect": { "hgvs": "ENSP00000346369.2:p.Pro840Gln", "hgvsWellDefined": "ENSP00000346369.2:p.Pro840Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS824072" }, { "coordinates": [ { "allele": "A", "end": 3399, "referenceAllele": "C", "start": 3398 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000540630.6:c.3398C>A" ], "proteinEffect": { "hgvs": "ENSP00000441668.3:p.Pro1133Gln", "hgvsWellDefined": "ENSP00000441668.3:p.Pro1133Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS825912" }, { "coordinates": [ { "allele": "A", "end": 3525, "referenceAllele": "C", "start": 3524 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000613327.5:c.3344C>A" ], "proteinEffect": { "hgvs": "ENSP00000480757.2:p.Pro1115Gln", "hgvsWellDefined": "ENSP00000480757.2:p.Pro1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS826438" }, { "coordinates": [ { "allele": "A", "end": 3235, "referenceAllele": "C", "start": 3234 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000688812.1:c.*607C>A" ], "proteinEffect": { "hgvs": "ENSP00000510658.1:n.*607C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831833" }, { "coordinates": [ { "allele": "A", "end": 3702, "referenceAllele": "C", "start": 3701 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000690544.1:c.*2615C>A" ], "proteinEffect": { "hgvs": "ENSP00000508989.1:n.*2615C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832754" }, { "coordinates": [ { "allele": "A", "end": 3581, "referenceAllele": "C", "start": 3580 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000358913.10:c.3344C>A" ], "proteinEffect": { "hgvs": "ENSP00000351790.5:p.Pro1115Gln", "hgvsWellDefined": "ENSP00000351790.5:p.Pro1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS749135", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358913.10:c.3344C>A" }, "RefSeq": { "hgvs": "NM_032578.4:c.3344C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351790.5:p.Pro1115Gln" }, "RefSeq": { "hgvs": "NP_115967.2:p.Pro1115Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 2733, "referenceAllele": "C", "start": 2732 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000354393.6:c.2519C>A" ], "proteinEffect": { "hgvs": "ENSP00000346369.2:p.Pro840Gln", "hgvsWellDefined": "ENSP00000346369.2:p.Pro840Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS263107" }, { "coordinates": [ { "allele": "A", "end": 3832, "referenceAllele": "C", "start": 3831 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000358913.9:c.3344C>A" ], "proteinEffect": { "hgvs": "ENSP00000351790.5:p.Pro1115Gln", "hgvsWellDefined": "ENSP00000351790.5:p.Pro1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS264620" }, { "coordinates": [ { "allele": "A", "end": 3531, "referenceAllele": "C", "start": 3530 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000540630.5:c.3344C>A" ], "proteinEffect": { "hgvs": "ENSP00000441668.2:p.Pro1115Gln", "hgvsWellDefined": "ENSP00000441668.2:p.Pro1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS362505" }, { "coordinates": [ { "allele": "A", "end": 3940, "referenceAllele": "C", "start": 3939 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "ENST00000613327.4:c.2462C>A" ], "proteinEffect": { "hgvs": "ENSP00000480757.1:p.Pro821Gln", "hgvsWellDefined": "ENSP00000480757.1:p.Pro821Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS401701" }, { "coordinates": [ { "allele": "A", "end": 3531, "referenceAllele": "C", "start": 3530 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_001256267.1:c.3344C>A" ], "proteinEffect": { "hgvs": "NP_001243196.1:p.Pro1115Gln", "hgvsWellDefined": "NP_001243196.1:p.Pro1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS019149" }, { "coordinates": [ { "allele": "A", "end": 3940, "referenceAllele": "C", "start": 3939 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_001256268.1:c.2462C>A" ], "proteinEffect": { "hgvs": "NP_001243197.1:p.Pro821Gln", "hgvsWellDefined": "NP_001243197.1:p.Pro821Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS019150" }, { "coordinates": [ { "allele": "A", "end": 3636, "referenceAllele": "C", "start": 3635 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_032578.3:c.3344C>A", "LRG_410t1:c.3344C>A" ], "proteinEffect": { "hgvs": "NP_115967.2:p.Pro1115Gln", "hgvsWellDefined": "NP_115967.2:p.Pro1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS039193" }, { "coordinates": [ { "allele": "A", "end": 2771, "referenceAllele": "C", "start": 2770 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NR_045662.3:n.2771C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS051384" }, { "coordinates": [ { "allele": "A", "end": 3473, "referenceAllele": "C", "start": 3472 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NR_045663.3:n.3473C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS051385" }, { "coordinates": [ { "allele": "A", "end": 3620, "referenceAllele": "C", "start": 3619 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "XM_006718043.2:c.3398C>A" ], "proteinEffect": { "hgvs": "XP_006718106.1:p.Pro1133Gln", "hgvsWellDefined": "XP_006718106.1:p.Pro1133Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS072449" }, { "coordinates": [ { "allele": "A", "end": 3375, "referenceAllele": "C", "start": 3374 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "XM_011540292.1:c.3374C>A" ], "proteinEffect": { "hgvs": "XP_011538594.1:p.Pro1125Gln", "hgvsWellDefined": "XP_011538594.1:p.Pro1125Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS107240" }, { "coordinates": [ { "allele": "T", "end": 1803, "endIntronDirection": "-", "endIntronOffset": 150, "referenceAllele": "G", "start": 1803, "startIntronDirection": "-", "startIntronOffset": 151 } ], "hgvs": [ "XR_946029.1:n.1804-151G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS139617" }, { "coordinates": [ { "allele": "A", "end": 3972, "referenceAllele": "C", "start": 3971 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "XM_017016833.1:c.3422C>A" ], "proteinEffect": { "hgvs": "XP_016872322.1:p.Pro1141Gln", "hgvsWellDefined": "XP_016872322.1:p.Pro1141Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS569151" }, { "coordinates": [ { "allele": "A", "end": 3431, "referenceAllele": "C", "start": 3430 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "XM_017016834.2:c.3344C>A" ], "proteinEffect": { "hgvs": "XP_016872323.1:p.Pro1115Gln", "hgvsWellDefined": "XP_016872323.1:p.Pro1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS569152" }, { "coordinates": [ { "allele": "A", "end": 2658, "referenceAllele": "C", "start": 2657 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "XM_024448236.1:c.2222C>A" ], "proteinEffect": { "hgvs": "XP_024304004.1:p.Pro741Gln", "hgvsWellDefined": "XP_024304004.1:p.Pro741Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS581816" }, { "coordinates": [ { "allele": "A", "end": 2881, "referenceAllele": "C", "start": 2880 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NR_045662.4:n.2881C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702392" }, { "coordinates": [ { "allele": "A", "end": 3418, "referenceAllele": "C", "start": 3417 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NR_045663.4:n.3418C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702393" }, { "coordinates": [ { "allele": "A", "end": 3641, "referenceAllele": "C", "start": 3640 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_001256267.2:c.3344C>A" ], "proteinEffect": { "hgvs": "NP_001243196.1:p.Pro1115Gln", "hgvsWellDefined": "NP_001243196.1:p.Pro1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS714731" }, { "coordinates": [ { "allele": "A", "end": 3885, "referenceAllele": "C", "start": 3884 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_001256268.2:c.2462C>A" ], "proteinEffect": { "hgvs": "NP_001243197.1:p.Pro821Gln", "hgvsWellDefined": "NP_001243197.1:p.Pro821Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS714732" }, { "coordinates": [ { "allele": "A", "end": 3581, "referenceAllele": "C", "start": 3580 } ], "gene": "http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_032578.4:c.3344C>A" ], "proteinEffect": { "hgvs": "NP_115967.2:p.Pro1115Gln", "hgvsWellDefined": "NP_115967.2:p.Pro1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS728857", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358913.10:c.3344C>A" }, "RefSeq": { "hgvs": "NM_032578.4:c.3344C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351790.5:p.Pro1115Gln" }, "RefSeq": { "hgvs": "NP_115967.2:p.Pro1115Gln" } } } } ], "type": "nucleotide" }