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_000011.10:g.17406965T= , CM000673.2:g.17406965T= | GRCh38 |
| NC_000011.9:g.17428512T= , CM000673.1:g.17428512T= | GRCh37 |
| NC_000011.8:g.17385088T= | NCBI36 |
| NG_008867.1:g.74938A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2654A= | ||
| ENST00000529967.6:n.1424A= | ||
| ENST00000532220.2:n.817A= | ||
| ENST00000642611.2:n.3154A= | ||
| ENST00000645004.2:n.584A= | ||
| ENST00000682051.1:n.3101A= | ||
| ENST00000682110.1:n.3154A= | ||
| ENST00000682140.1:c.3082A= | ENSP00000507829.1:p.Ile1028= | |
| ENST00000682185.1:n.4390A= | ||
| ENST00000682204.1:c.*1223A= | ENSP00000507094.1:n.*1223A= | |
| ENST00000682215.1:n.3151A= | ||
| ENST00000682288.1:c.*1516A= | ENSP00000507506.1:n.*1516A= | |
| ENST00000682442.1:n.3275A= | ||
| ENST00000682528.1:n.3231A= | ||
| ENST00000682673.1:n.3098A= | ||
| ENST00000682805.1:n.3151A= | ||
| ENST00000682965.1:c.3082A= | ENSP00000508229.1:p.Ile1028= | |
| ENST00000683093.1:n.3253A= | ||
| ENST00000683136.1:c.3082A= | ENSP00000507768.1:p.Ile1028= | |
| ENST00000683153.1:n.3310A= | ||
| ENST00000683365.1:n.3256A= | ||
| ENST00000683377.1:n.3154A= | ||
| ENST00000683456.1:c.*222A= | ENSP00000508318.1:n.*222A= | |
| ENST00000683522.1:n.3154A= | ||
| ENST00000683562.1:c.*1254A= | ENSP00000508265.1:n.*1254A= | |
| ENST00000683693.1:n.3231A= | ||
| ENST00000683725.1:c.3085A= | ENSP00000507496.1:p.Ile1029= | |
| ENST00000684010.1:n.3149A= | ||
| ENST00000684157.1:n.3154A= | ||
| ENST00000684253.1:n.3057A= | ||
| ENST00000684288.1:c.*1257A= | ENSP00000507143.1:n.*1257A= | |
| ENST00000684313.1:n.2586A= | ||
| ENST00000684332.1:n.3227A= | ||
| ENST00000684371.1:n.3260A= | ||
| ENST00000684404.1:n.3197A= | ||
| ENST00000684442.1:n.3154A= | ||
| ENST00000684555.1:c.*1297A= | ENSP00000507705.1:n.*1297A= | |
| ENST00000684571.1:c.2926A= | ENSP00000506935.1:p.Ile976= | |
| ENST00000684593.1:c.*2790A= | ENSP00000507005.1:n.*2790A= | |
| ENST00000684711.1:c.*1481A= | ENSP00000506841.1:n.*1481A= | |
| ENST00000302539.9:c.3088A= | ENSP00000303960.4:p.Ile1030= | |
| ENST00000389817.8:c.3085A= MANE Select | ENSP00000374467.4:p.Ile1029= | |
| ENST00000642271.1:c.3082A= | ENSP00000493749.1:p.Ile1028= | |
| ENST00000642579.1:c.1169A= | ||
| ENST00000642611.1:n.3039A= | ||
| ENST00000642902.1:c.2867A= | ||
| ENST00000643260.1:c.3085A= | ENSP00000494450.1:p.Ile1029= | |
| ENST00000643562.1:c.*1061A= | ENSP00000496124.1:n.*1061A= | |
| ENST00000643925.1:c.1209A= | ||
| ENST00000644447.1:c.1441A= | ENSP00000496282.1:p.Ile481= | |
| ENST00000644484.1:c.*1340A= | ENSP00000493558.1:n.*1340A= | |
| ENST00000644542.1:c.*2790A= | ENSP00000495532.1:n.*2790A= | |
| ENST00000644675.1:c.*1257A= | ENSP00000494567.1:n.*1257A= | |
| ENST00000644757.1:c.*1370A= | ENSP00000495085.1:n.*1370A= | |
| ENST00000644772.1:c.3151A= | ENSP00000494321.1:p.Ile1051= | |
| ENST00000645004.1:n.224A= | ||
| ENST00000645076.1:c.2284A= | ||
| ENST00000645417.1:c.251A= | ||
| ENST00000645744.1:c.*1349A= | ENSP00000494564.1:n.*1349A= | |
| ENST00000645760.1:c.3360A= | ||
| ENST00000645884.1:c.*222A= | ENSP00000495516.1:n.*222A= | |
| ENST00000646003.1:c.*1041A= | ENSP00000495259.1:n.*1041A= | |
| ENST00000646207.1:c.*1552A= | ENSP00000495025.1:n.*1552A= | |
| ENST00000646276.1:c.*1358A= | ENSP00000496070.1:n.*1358A= | |
| ENST00000646592.1:c.2391A= | ||
| ENST00000646902.1:c.3082A= | ENSP00000494101.1:p.Ile1028= | |
| ENST00000646993.1:c.*1481A= | ENSP00000493720.1:n.*1481A= | |
| ENST00000647013.1:c.3091A= | ENSP00000496741.1:n.3091A= | |
| ENST00000647015.1:c.2836A= | ENSP00000495389.1:p.Ile946= | |
| ENST00000647086.1:c.*2815A= | ENSP00000493677.1:n.*2815A= | |
| ENST00000647158.1:c.*1226A= | ENSP00000495744.1:n.*1226A= | |
| ENST00000302539.8:c.3088A= | ENSP00000303960.4:p.Ile1030= | |
| ENST00000389817.7:c.3085A= | ENSP00000374467.3:p.Ile1029= | |
| ENST00000524561.1:n.217A= | ||
| ENST00000526921.5:n.769A= | ||
| ENST00000527905.5:c.2955A= | ENSP00000431653.1:p.Pro985= | |
| ENST00000529967.5:n.754A= | ||
| NM_000352.4:c.3085A= | NP_000343.2:p.Ile1029= | |
| NM_001287174.1:c.3088A= | NP_001274103.1:p.Ile1030= | |
| XM_011520331.1:c.3085A= | XP_011518633.1:p.Ile1029= | |
| XM_011520332.1:c.3088A= | XP_011518634.1:p.Ile1030= | |
| XM_011520333.1:c.1585A= | XP_011518635.1:p.Ile529= | |
| XR_930890.1:n.3151A= | ||
| XR_930891.1:n.3151A= | ||
| XR_930892.1:n.3051A= | ||
| XR_930893.1:n.3048A= | ||
| NM_001351295.1:c.3151A= | NP_001338224.1:p.Ile1051= | |
| NM_001351296.1:c.3085A= | NP_001338225.1:p.Ile1029= | |
| NM_001351297.1:c.3082A= | NP_001338226.1:p.Ile1028= | |
| NR_147094.1:n.3234A= | ||
| XM_017018197.2:c.3154A= | XP_016873686.1:p.Ile1052= | |
| XM_017018199.1:c.3151A= | XP_016873688.1:p.Ile1051= | |
| XM_017018201.2:c.3154A= | XP_016873690.1:p.Ile1052= | |
| XM_017018202.1:c.1651A= | XP_016873691.1:p.Ile551= | |
| XM_017018204.1:c.1042A= | XP_016873693.1:p.Ile348= | |
| XM_024448668.1:c.1453A= | XP_024304436.1:p.Ile485= | |
| XR_001747945.2:n.3226A= | ||
| XR_001747946.2:n.3157A= | ||
| XR_002957189.1:n.3306A= | ||
| NM_000352.6:c.3085A= MANE Select | NP_000343.2:p.Ile1029= | |
| NM_001287174.2:c.3088A= | NP_001274103.1:p.Ile1030= | |
| NM_001351295.2:c.3151A= | NP_001338224.1:p.Ile1051= | |
| NM_001351296.2:c.3085A= | NP_001338225.1:p.Ile1029= | |
| NM_001351297.2:c.3082A= | NP_001338226.1:p.Ile1028= | |
| NR_147094.2:n.3234A= | ||
| NM_001287174.3:c.3088A= | NP_001274103.1:p.Ile1030= |