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.17396931G= , CM000673.2:g.17396931G= | GRCh38 |
| NC_000011.9:g.17418478G= , CM000673.1:g.17418478G= | GRCh37 |
| NC_000011.8:g.17375054G= | NCBI36 |
| NG_008867.1:g.84972C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3705C= | ||
| ENST00000528374.2:c.695C= | ||
| ENST00000529967.6:n.2443C= | ||
| ENST00000532220.2:n.2352C= | ||
| ENST00000642611.2:n.4319C= | ||
| ENST00000644057.2:n.547C= | ||
| ENST00000645004.2:n.1603C= | ||
| ENST00000682051.1:n.4266C= | ||
| ENST00000682110.1:n.4319C= | ||
| ENST00000682140.1:c.3985+262C= | ENSP00000507829.1:n.3985+262C= | |
| ENST00000682185.1:n.5409C= | ||
| ENST00000682204.1:c.*2242C= | ENSP00000507094.1:n.*2242C= | |
| ENST00000682215.1:n.4686C= | ||
| ENST00000682288.1:c.*2535C= | ENSP00000507506.1:n.*2535C= | |
| ENST00000682442.1:n.4539C= | ||
| ENST00000682528.1:n.4396C= | ||
| ENST00000682673.1:n.4263C= | ||
| ENST00000682805.1:n.4686C= | ||
| ENST00000682965.1:c.*526C= | ENSP00000508229.1:n.*526C= | |
| ENST00000683093.1:n.4418C= | ||
| ENST00000683136.1:c.3987C= | ENSP00000507768.1:p.Ile1329= | |
| ENST00000683153.1:n.4361C= | ||
| ENST00000683365.1:n.4421C= | ||
| ENST00000683377.1:n.4319C= | ||
| ENST00000683456.1:c.*1241C= | ENSP00000508318.1:n.*1241C= | |
| ENST00000683522.1:n.4319C= | ||
| ENST00000683562.1:c.*2273C= | ENSP00000508265.1:n.*2273C= | |
| ENST00000683693.1:n.4766C= | ||
| ENST00000683725.1:c.4104C= | ENSP00000507496.1:p.Ile1368= | |
| ENST00000684010.1:n.4314C= | ||
| ENST00000684157.1:n.4319C= | ||
| ENST00000684253.1:n.4222C= | ||
| ENST00000684288.1:c.*2276C= | ENSP00000507143.1:n.*2276C= | |
| ENST00000684313.1:n.3751C= | ||
| ENST00000684332.1:n.4392C= | ||
| ENST00000684371.1:n.4425C= | ||
| ENST00000684404.1:n.4362C= | ||
| ENST00000684442.1:n.4543C= | ||
| ENST00000684555.1:c.*2316C= | ENSP00000507705.1:n.*2316C= | |
| ENST00000684571.1:c.3945C= | ENSP00000506935.1:p.Ile1315= | |
| ENST00000684593.1:c.*3809C= | ENSP00000507005.1:n.*3809C= | |
| ENST00000684711.1:c.*2500C= | ENSP00000506841.1:n.*2500C= | |
| ENST00000302539.9:c.4107C= | ENSP00000303960.4:p.Ile1369= | |
| ENST00000389817.8:c.4104C= MANE Select | ENSP00000374467.4:p.Ile1368= | |
| ENST00000642271.1:c.4101C= | ENSP00000493749.1:p.Ile1367= | |
| ENST00000642579.1:c.2158C= | ||
| ENST00000642611.1:n.4204C= | ||
| ENST00000642902.1:c.3886C= | ||
| ENST00000643260.1:c.4104C= | ENSP00000494450.1:p.Ile1368= | |
| ENST00000643562.1:c.*2226C= | ENSP00000496124.1:n.*2226C= | |
| ENST00000643925.1:c.2744C= | ||
| ENST00000644057.1:n.181C= | ||
| ENST00000644484.1:c.*2505C= | ENSP00000493558.1:n.*2505C= | |
| ENST00000644675.1:c.*2276C= | ENSP00000494567.1:n.*2276C= | |
| ENST00000644757.1:c.*2535C= | ENSP00000495085.1:n.*2535C= | |
| ENST00000644772.1:c.4170C= | ENSP00000494321.1:p.Ile1390= | |
| ENST00000645004.1:n.1759C= | ||
| ENST00000645076.1:c.3303C= | ||
| ENST00000645417.1:c.1292C= | ||
| ENST00000645744.1:c.*2884C= | ENSP00000494564.1:n.*2884C= | |
| ENST00000645760.1:c.4525C= | ||
| ENST00000645884.1:c.*1387C= | ENSP00000495516.1:n.*1387C= | |
| ENST00000646003.1:c.*2206C= | ENSP00000495259.1:n.*2206C= | |
| ENST00000646207.1:c.*2941C= | ENSP00000495025.1:n.*2941C= | |
| ENST00000646276.1:c.*2523C= | ENSP00000496070.1:n.*2523C= | |
| ENST00000646592.1:c.3410C= | ||
| ENST00000646902.1:c.4071C= | ENSP00000494101.1:p.Ile1357= | |
| ENST00000646993.1:c.*2646C= | ENSP00000493720.1:n.*2646C= | |
| ENST00000647013.1:c.4110C= | ENSP00000496741.1:n.4110C= | |
| ENST00000647015.1:c.3855C= | ENSP00000495389.1:p.Ile1285= | |
| ENST00000647086.1:c.*3690C= | ENSP00000493677.1:n.*3690C= | |
| ENST00000647158.1:c.*2391C= | ENSP00000495744.1:n.*2391C= | |
| ENST00000302539.8:c.4107C= | ENSP00000303960.4:p.Ile1369= | |
| ENST00000389817.7:c.4104C= | ENSP00000374467.3:p.Ile1368= | |
| ENST00000527905.5:c.*1126C= | ENSP00000431653.1:n.*1126C= | |
| ENST00000528374.1:c.586C= | ||
| ENST00000532220.1:n.578C= | ||
| NM_000352.4:c.4104C= | NP_000343.2:p.Ile1368= | |
| NM_001287174.1:c.4107C= | NP_001274103.1:p.Ile1369= | |
| XM_011520331.1:c.4104C= | XP_011518633.1:p.Ile1368= | |
| XM_011520332.1:c.4107C= | XP_011518634.1:p.Ile1369= | |
| XM_011520333.1:c.2604C= | XP_011518635.1:p.Ile868= | |
| XR_930890.1:n.4170C= | ||
| NM_001351295.1:c.4170C= | NP_001338224.1:p.Ile1390= | |
| NM_001351296.1:c.4104C= | NP_001338225.1:p.Ile1368= | |
| NM_001351297.1:c.4101C= | NP_001338226.1:p.Ile1367= | |
| NR_147094.1:n.4399C= | ||
| XM_017018197.2:c.4173C= | XP_016873686.1:p.Ile1391= | |
| XM_017018199.1:c.4170C= | XP_016873688.1:p.Ile1390= | |
| XM_017018201.2:c.4173C= | XP_016873690.1:p.Ile1391= | |
| XM_017018202.1:c.2670C= | XP_016873691.1:p.Ile890= | |
| XM_017018204.1:c.2061C= | XP_016873693.1:p.Ile687= | |
| XM_024448668.1:c.2472C= | XP_024304436.1:p.Ile824= | |
| XR_001747945.2:n.4245C= | ||
| XR_001747946.2:n.4176C= | ||
| XR_002957189.1:n.4841C= | ||
| NM_000352.6:c.4104C= MANE Select | NP_000343.2:p.Ile1368= | |
| NM_001287174.2:c.4107C= | NP_001274103.1:p.Ile1369= | |
| NM_001351295.2:c.4170C= | NP_001338224.1:p.Ile1390= | |
| NM_001351296.2:c.4104C= | NP_001338225.1:p.Ile1368= | |
| NM_001351297.2:c.4101C= | NP_001338226.1:p.Ile1367= | |
| NR_147094.2:n.4399C= | ||
| NM_001287174.3:c.4107C= | NP_001274103.1:p.Ile1369= |