UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73482070C= , CM000668.2:g.73482070C= | GRCh38 |
| NC_000006.11:g.74191793C= , CM000668.1:g.74191793C= | GRCh37 |
| NC_000006.10:g.74248514C= | NCBI36 |
| NG_032856.1:g.25340C= | |
| NG_032856.2:g.25340C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000442897.7:c.*422C= | ENSP00000396529.2:n.*422C= | |
| ENST00000445187.6:c.*433C= | ENSP00000407580.2:n.*433C= | |
| ENST00000487960.2:n.1373C= | ||
| ENST00000498286.6:c.1291C= MANE Select | ENSP00000419561.2:p.Arg431= | |
| ENST00000521156.6:c.1069C= | ENSP00000428863.2:p.Arg357= | |
| ENST00000522205.6:c.*834C= | ENSP00000428903.2:n.*834C= | |
| ENST00000523763.2:c.1291C= | ENSP00000429595.2:p.Arg431= | |
| ENST00000524046.2:c.*884C= | ENSP00000430660.2:n.*884C= | |
| ENST00000679352.1:c.*663C= | ENSP00000505776.1:n.*663C= | |
| ENST00000679364.1:c.*433C= | ENSP00000505626.1:n.*433C= | |
| ENST00000679411.1:c.*1086C= | ENSP00000506532.1:n.*1086C= | |
| ENST00000679418.1:c.*845C= | ENSP00000505278.1:n.*845C= | |
| ENST00000679524.1:c.*545C= | ENSP00000505038.1:n.*545C= | |
| ENST00000679591.1:c.1284C= | ENSP00000505656.1:n.1284C= | |
| ENST00000679592.1:c.*1105C= | ENSP00000505736.1:n.*1105C= | |
| ENST00000679604.1:c.*608-379C= | ENSP00000506268.1:n.*608-379C= | |
| ENST00000679612.1:n.1656C= | ||
| ENST00000679627.1:c.*135C= | ENSP00000505373.1:n.*135C= | |
| ENST00000679675.1:c.1336-379C= | ENSP00000505458.1:n.1336-379C= | |
| ENST00000679730.1:c.*502-379C= | ENSP00000506698.1:n.*502-379C= | |
| ENST00000679808.1:c.*108C= | ENSP00000506127.1:n.*108C= | |
| ENST00000679870.1:c.*845C= | ENSP00000505401.1:n.*845C= | |
| ENST00000679900.1:c.*335C= | ENSP00000505653.1:n.*335C= | |
| ENST00000679905.1:c.1261-379C= | ENSP00000505787.1:n.1261-379C= | |
| ENST00000679947.1:c.*135C= | ENSP00000506630.1:n.*135C= | |
| ENST00000679993.1:n.1370C= | ||
| ENST00000680034.1:c.*538C= | ENSP00000505785.1:n.*538C= | |
| ENST00000680131.1:c.*24C= | ENSP00000505906.1:n.*24C= | |
| ENST00000680195.1:n.1488C= | ||
| ENST00000680238.1:c.*834C= | ENSP00000506260.1:n.*834C= | |
| ENST00000680266.1:n.1656C= | ||
| ENST00000680289.1:c.*834C= | ENSP00000505097.1:n.*834C= | |
| ENST00000680350.1:n.1625+1265C= | ||
| ENST00000680405.1:n.1623C= | ||
| ENST00000680428.1:c.*248C= | ENSP00000506210.1:n.*248C= | |
| ENST00000680544.1:c.*804-379C= | ENSP00000506702.1:n.*804-379C= | |
| ENST00000680563.1:c.950C= | ||
| ENST00000680570.1:n.1667C= | ||
| ENST00000680601.1:c.*815C= | ENSP00000506582.1:n.*815C= | |
| ENST00000680609.1:c.*422C= | ENSP00000505053.1:n.*422C= | |
| ENST00000680686.1:c.1069C= | ENSP00000506609.1:p.Arg357= | |
| ENST00000680758.1:c.*1056C= | ENSP00000505192.1:n.*1056C= | |
| ENST00000680775.1:c.*669C= | ENSP00000505199.1:n.*669C= | |
| ENST00000680794.1:c.*1045-379C= | ENSP00000506362.1:n.*1045-379C= | |
| ENST00000680841.1:c.1270C= | ENSP00000506524.1:n.1270C= | |
| ENST00000680875.1:c.*78-379C= | ENSP00000506042.1:n.*78-379C= | |
| ENST00000680902.1:c.*262C= | ENSP00000505813.1:n.*262C= | |
| ENST00000681094.1:c.*108C= | ENSP00000505394.1:n.*108C= | |
| ENST00000681141.1:c.*854-379C= | ENSP00000506035.1:n.*854-379C= | |
| ENST00000681165.1:c.*845C= | ENSP00000506088.1:n.*845C= | |
| ENST00000681204.1:c.1291C= | ENSP00000505819.1:p.Arg431= | |
| ENST00000681212.1:n.1742-379C= | ||
| ENST00000681254.1:c.*950C= | ENSP00000506575.1:n.*950C= | |
| ENST00000681267.1:c.*78-379C= | ENSP00000506570.1:n.*78-379C= | |
| ENST00000681284.1:n.1656C= | ||
| ENST00000681294.1:c.*248C= | ENSP00000505615.1:n.*248C= | |
| ENST00000681337.1:c.*108C= | ENSP00000506108.1:n.*108C= | |
| ENST00000681438.1:c.*391+1265C= | ENSP00000505135.1:n.*391+1265C= | |
| ENST00000681500.1:c.1009C= | ENSP00000506439.1:p.Arg337= | |
| ENST00000681509.1:c.*24C= | ENSP00000506571.1:n.*24C= | |
| ENST00000681579.1:c.1039-379C= | ENSP00000505732.1:n.1039-379C= | |
| ENST00000681610.1:c.1260+1265C= | ENSP00000505229.1:n.1260+1265C= | |
| ENST00000681620.1:c.*105-379C= | ENSP00000505386.1:n.*105-379C= | |
| ENST00000681624.1:c.*1058C= | ENSP00000505820.1:n.*1058C= | |
| ENST00000681691.1:c.1291C= | ENSP00000505613.1:p.Arg431= | |
| ENST00000681705.1:c.*24C= | ENSP00000506381.1:n.*24C= | |
| ENST00000681890.1:c.*24C= | ENSP00000505751.1:n.*24C= | |
| ENST00000681932.1:c.*604C= | ENSP00000505826.1:n.*604C= | |
| ENST00000370300.8:c.1366C= | ENSP00000359323.4:p.Arg456= | |
| ENST00000370305.5:c.1144C= | ENSP00000359328.1:p.Arg382= | |
| ENST00000370308.8:n.1472C= | ||
| ENST00000415228.5:c.*422C= | ENSP00000416397.1:n.*422C= | |
| ENST00000415954.6:c.1411C= | ENSP00000402038.2:p.Arg471= | |
| ENST00000445187.5:c.405C= | ENSP00000407580.1:n.405C= | |
| ENST00000462039.5:n.1313C= | ||
| ENST00000498286.5:c.1291C= | ENSP00000419561.1:p.Arg431= | |
| ENST00000524046.1:c.204-379C= | ||
| NM_001123226.1:c.1411C= | NP_001116698.1:p.Arg471= | |
| NM_012123.3:c.1291C= | NP_036255.2:p.Arg431= | |
| NM_133645.2:c.1366C= | NP_598400.1:p.Arg456= | |
| XM_006715444.2:c.1069C= | XP_006715507.1:p.Arg357= | |
| XM_006715445.2:c.1069C= | XP_006715508.1:p.Arg357= | |
| XM_006715446.2:c.1291C= | XP_006715509.1:p.Arg431= | |
| XM_006715447.2:c.*24C= | XP_006715510.1:n.*24C= | |
| XM_011535723.1:c.880C= | XP_011534025.1:p.Arg294= | |
| XM_011535724.1:c.880C= | XP_011534026.1:p.Arg294= | |
| XM_011535725.1:c.880C= | XP_011534027.1:p.Arg294= | |
| NM_001123226.2:c.1411C= | NP_001116698.1:p.Arg471= | |
| NM_012123.4:c.1291C= MANE Select | NP_036255.2:p.Arg431= | |
| NM_133645.3:c.1366C= | NP_598400.1:p.Arg456= |