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.17396932A>G , CM000673.2:g.17396932A>G | GRCh38 |
| NC_000011.9:g.17418479A>G , CM000673.1:g.17418479A>G | GRCh37 |
| NC_000011.8:g.17375055A>G | NCBI36 |
| NG_008867.1:g.84971T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3704T>C | ||
| ENST00000528374.2:c.694T>C | ||
| ENST00000529967.6:n.2442T>C | ||
| ENST00000532220.2:n.2351T>C | ||
| ENST00000642611.2:n.4318T>C | ||
| ENST00000644057.2:n.546T>C | ||
| ENST00000645004.2:n.1602T>C | ||
| ENST00000682051.1:n.4265T>C | ||
| ENST00000682110.1:n.4318T>C | ||
| ENST00000682140.1:c.3985+261T>C | ENSP00000507829.1:n.3985+261T>C | |
| ENST00000682185.1:n.5408T>C | ||
| ENST00000682204.1:c.*2241T>C | ENSP00000507094.1:n.*2241T>C | |
| ENST00000682215.1:n.4685T>C | ||
| ENST00000682288.1:c.*2534T>C | ENSP00000507506.1:n.*2534T>C | |
| ENST00000682442.1:n.4538T>C | ||
| ENST00000682528.1:n.4395T>C | ||
| ENST00000682673.1:n.4262T>C | ||
| ENST00000682805.1:n.4685T>C | ||
| ENST00000682965.1:c.*525T>C | ENSP00000508229.1:n.*525T>C | |
| ENST00000683093.1:n.4417T>C | ||
| ENST00000683136.1:c.3986T>C | ENSP00000507768.1:p.Ile1329Thr | |
| ENST00000683153.1:n.4360T>C | ||
| ENST00000683365.1:n.4420T>C | ||
| ENST00000683377.1:n.4318T>C | ||
| ENST00000683456.1:c.*1240T>C | ENSP00000508318.1:n.*1240T>C | |
| ENST00000683522.1:n.4318T>C | ||
| ENST00000683562.1:c.*2272T>C | ENSP00000508265.1:n.*2272T>C | |
| ENST00000683693.1:n.4765T>C | ||
| ENST00000683725.1:c.4103T>C | ENSP00000507496.1:p.Ile1368Thr | |
| ENST00000684010.1:n.4313T>C | ||
| ENST00000684157.1:n.4318T>C | ||
| ENST00000684253.1:n.4221T>C | ||
| ENST00000684288.1:c.*2275T>C | ENSP00000507143.1:n.*2275T>C | |
| ENST00000684313.1:n.3750T>C | ||
| ENST00000684332.1:n.4391T>C | ||
| ENST00000684371.1:n.4424T>C | ||
| ENST00000684404.1:n.4361T>C | ||
| ENST00000684442.1:n.4542T>C | ||
| ENST00000684555.1:c.*2315T>C | ENSP00000507705.1:n.*2315T>C | |
| ENST00000684571.1:c.3944T>C | ENSP00000506935.1:p.Ile1315Thr | |
| ENST00000684593.1:c.*3808T>C | ENSP00000507005.1:n.*3808T>C | |
| ENST00000684711.1:c.*2499T>C | ENSP00000506841.1:n.*2499T>C | |
| ENST00000302539.9:c.4106T>C | ENSP00000303960.4:p.Ile1369Thr | |
| ENST00000389817.8:c.4103T>C MANE Select | ENSP00000374467.4:p.Ile1368Thr | |
| ENST00000642271.1:c.4100T>C | ENSP00000493749.1:p.Ile1367Thr | |
| ENST00000642579.1:c.2157T>C | ||
| ENST00000642611.1:n.4203T>C | ||
| ENST00000642902.1:c.3885T>C | ||
| ENST00000643260.1:c.4103T>C | ENSP00000494450.1:p.Ile1368Thr | |
| ENST00000643562.1:c.*2225T>C | ENSP00000496124.1:n.*2225T>C | |
| ENST00000643925.1:c.2743T>C | ||
| ENST00000644057.1:n.180T>C | ||
| ENST00000644484.1:c.*2504T>C | ENSP00000493558.1:n.*2504T>C | |
| ENST00000644675.1:c.*2275T>C | ENSP00000494567.1:n.*2275T>C | |
| ENST00000644757.1:c.*2534T>C | ENSP00000495085.1:n.*2534T>C | |
| ENST00000644772.1:c.4169T>C | ENSP00000494321.1:p.Ile1390Thr | |
| ENST00000645004.1:n.1758T>C | ||
| ENST00000645076.1:c.3302T>C | ||
| ENST00000645417.1:c.1291T>C | ||
| ENST00000645744.1:c.*2883T>C | ENSP00000494564.1:n.*2883T>C | |
| ENST00000645760.1:c.4524T>C | ||
| ENST00000645884.1:c.*1386T>C | ENSP00000495516.1:n.*1386T>C | |
| ENST00000646003.1:c.*2205T>C | ENSP00000495259.1:n.*2205T>C | |
| ENST00000646207.1:c.*2940T>C | ENSP00000495025.1:n.*2940T>C | |
| ENST00000646276.1:c.*2522T>C | ENSP00000496070.1:n.*2522T>C | |
| ENST00000646592.1:c.3409T>C | ||
| ENST00000646902.1:c.4070T>C | ENSP00000494101.1:p.Ile1357Thr | |
| ENST00000646993.1:c.*2645T>C | ENSP00000493720.1:n.*2645T>C | |
| ENST00000647013.1:c.4109T>C | ENSP00000496741.1:n.4109T>C | |
| ENST00000647015.1:c.3854T>C | ENSP00000495389.1:p.Ile1285Thr | |
| ENST00000647086.1:c.*3689T>C | ENSP00000493677.1:n.*3689T>C | |
| ENST00000647158.1:c.*2390T>C | ENSP00000495744.1:n.*2390T>C | |
| ENST00000302539.8:c.4106T>C | ENSP00000303960.4:p.Ile1369Thr | |
| ENST00000389817.7:c.4103T>C | ENSP00000374467.3:p.Ile1368Thr | |
| ENST00000527905.5:c.*1125T>C | ENSP00000431653.1:n.*1125T>C | |
| ENST00000528374.1:c.585T>C | ||
| ENST00000532220.1:n.577T>C | ||
| NM_000352.4:c.4103T>C | NP_000343.2:p.Ile1368Thr | |
| NM_001287174.1:c.4106T>C | NP_001274103.1:p.Ile1369Thr | |
| XM_011520331.1:c.4103T>C | XP_011518633.1:p.Ile1368Thr | |
| XM_011520332.1:c.4106T>C | XP_011518634.1:p.Ile1369Thr | |
| XM_011520333.1:c.2603T>C | XP_011518635.1:p.Ile868Thr | |
| XR_930890.1:n.4169T>C | ||
| NM_001351295.1:c.4169T>C | NP_001338224.1:p.Ile1390Thr | |
| NM_001351296.1:c.4103T>C | NP_001338225.1:p.Ile1368Thr | |
| NM_001351297.1:c.4100T>C | NP_001338226.1:p.Ile1367Thr | |
| NR_147094.1:n.4398T>C | ||
| XM_017018197.2:c.4172T>C | XP_016873686.1:p.Ile1391Thr | |
| XM_017018199.1:c.4169T>C | XP_016873688.1:p.Ile1390Thr | |
| XM_017018201.2:c.4172T>C | XP_016873690.1:p.Ile1391Thr | |
| XM_017018202.1:c.2669T>C | XP_016873691.1:p.Ile890Thr | |
| XM_017018204.1:c.2060T>C | XP_016873693.1:p.Ile687Thr | |
| XM_024448668.1:c.2471T>C | XP_024304436.1:p.Ile824Thr | |
| XR_001747945.2:n.4244T>C | ||
| XR_001747946.2:n.4175T>C | ||
| XR_002957189.1:n.4840T>C | ||
| NM_000352.6:c.4103T>C MANE Select | NP_000343.2:p.Ile1368Thr | |
| NM_001287174.2:c.4106T>C | NP_001274103.1:p.Ile1369Thr | |
| NM_001351295.2:c.4169T>C | NP_001338224.1:p.Ile1390Thr | |
| NM_001351296.2:c.4103T>C | NP_001338225.1:p.Ile1368Thr | |
| NM_001351297.2:c.4100T>C | NP_001338226.1:p.Ile1367Thr | |
| NR_147094.2:n.4398T>C | ||
| NM_001287174.3:c.4106T>C | NP_001274103.1:p.Ile1369Thr |