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.17395633G>T , CM000673.2:g.17395633G>T | GRCh38 |
| NC_000011.9:g.17417180G>T , CM000673.1:g.17417180G>T | GRCh37 |
| NC_000011.8:g.17373756G>T | NCBI36 |
| NG_008867.1:g.86270C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3885C>A | ||
| ENST00000528374.2:c.875C>A | ||
| ENST00000529967.6:n.2623C>A | ||
| ENST00000532220.2:n.3517C>A | ||
| ENST00000642611.2:n.5617C>A | ||
| ENST00000644057.2:n.860C>A | ||
| ENST00000645004.2:n.1783C>A | ||
| ENST00000682051.1:n.4446C>A | ||
| ENST00000682110.1:n.4499C>A | ||
| ENST00000682140.1:c.*70C>A | ENSP00000507829.1:n.*70C>A | |
| ENST00000682185.1:n.5589C>A | ||
| ENST00000682204.1:c.*2422C>A | ENSP00000507094.1:n.*2422C>A | |
| ENST00000682215.1:n.4866C>A | ||
| ENST00000682288.1:c.*2715C>A | ENSP00000507506.1:n.*2715C>A | |
| ENST00000682442.1:n.4719C>A | ||
| ENST00000682528.1:n.4576C>A | ||
| ENST00000682673.1:n.4443C>A | ||
| ENST00000682805.1:n.4904C>A | ||
| ENST00000682965.1:c.*706C>A | ENSP00000508229.1:n.*706C>A | |
| ENST00000683093.1:n.5583C>A | ||
| ENST00000683136.1:c.4167C>A | ENSP00000507768.1:p.Pro1389= | |
| ENST00000683153.1:n.4541C>A | ||
| ENST00000683365.1:n.4601C>A | ||
| ENST00000683377.1:n.4499C>A | ||
| ENST00000683456.1:c.*1421C>A | ENSP00000508318.1:n.*1421C>A | |
| ENST00000683522.1:n.4499C>A | ||
| ENST00000683562.1:c.*2453C>A | ENSP00000508265.1:n.*2453C>A | |
| ENST00000683693.1:n.6064C>A | ||
| ENST00000683725.1:c.4284C>A | ENSP00000507496.1:p.Pro1428= | |
| ENST00000684010.1:n.4494C>A | ||
| ENST00000684157.1:n.5484C>A | ||
| ENST00000684253.1:n.4402C>A | ||
| ENST00000684288.1:c.*2456C>A | ENSP00000507143.1:n.*2456C>A | |
| ENST00000684313.1:n.3931C>A | ||
| ENST00000684332.1:n.4572C>A | ||
| ENST00000684371.1:n.4605C>A | ||
| ENST00000684404.1:n.5527C>A | ||
| ENST00000684442.1:n.4723C>A | ||
| ENST00000684555.1:c.*2496C>A | ENSP00000507705.1:n.*2496C>A | |
| ENST00000684571.1:c.4125C>A | ENSP00000506935.1:p.Pro1375= | |
| ENST00000684593.1:c.*3989C>A | ENSP00000507005.1:n.*3989C>A | |
| ENST00000684711.1:c.*2680C>A | ENSP00000506841.1:n.*2680C>A | |
| ENST00000302539.9:c.4287C>A | ENSP00000303960.4:p.Pro1429= | |
| ENST00000389817.8:c.4284C>A MANE Select | ENSP00000374467.4:p.Pro1428= | |
| ENST00000642271.1:c.4281C>A | ENSP00000493749.1:p.Pro1427= | |
| ENST00000642579.1:c.2338C>A | ||
| ENST00000642611.1:n.5502C>A | ||
| ENST00000642902.1:c.4066C>A | ||
| ENST00000643260.1:c.4284C>A | ENSP00000494450.1:p.Pro1428= | |
| ENST00000643562.1:c.*2406C>A | ENSP00000496124.1:n.*2406C>A | |
| ENST00000643925.1:c.2924C>A | ||
| ENST00000644057.1:n.361C>A | ||
| ENST00000644484.1:c.*3670C>A | ENSP00000493558.1:n.*3670C>A | |
| ENST00000644675.1:c.*2456C>A | ENSP00000494567.1:n.*2456C>A | |
| ENST00000644757.1:c.*3202+631C>A | ENSP00000495085.1:n.*3202+631C>A | |
| ENST00000644772.1:c.4350C>A | ENSP00000494321.1:p.Pro1450= | |
| ENST00000645004.1:n.1977C>A | ||
| ENST00000645076.1:c.3483C>A | ||
| ENST00000645417.1:c.1472C>A | ||
| ENST00000645744.1:c.*3969C>A | ENSP00000494564.1:n.*3969C>A | |
| ENST00000645760.1:c.4705C>A | ||
| ENST00000645884.1:c.*1567C>A | ENSP00000495516.1:n.*1567C>A | |
| ENST00000646003.1:c.*2306C>A | ENSP00000495259.1:n.*2306C>A | |
| ENST00000646207.1:c.*3121C>A | ENSP00000495025.1:n.*3121C>A | |
| ENST00000646276.1:c.*3688C>A | ENSP00000496070.1:n.*3688C>A | |
| ENST00000646592.1:c.3590C>A | ||
| ENST00000646902.1:c.4251C>A | ENSP00000494101.1:p.Pro1417= | |
| ENST00000646993.1:c.*2826C>A | ENSP00000493720.1:n.*2826C>A | |
| ENST00000647013.1:c.4290C>A | ENSP00000496741.1:n.4290C>A | |
| ENST00000647015.1:c.4035C>A | ENSP00000495389.1:p.Pro1345= | |
| ENST00000647086.1:c.*3870C>A | ENSP00000493677.1:n.*3870C>A | |
| ENST00000647158.1:c.*2571C>A | ENSP00000495744.1:n.*2571C>A | |
| ENST00000302539.8:c.4287C>A | ENSP00000303960.4:p.Pro1429= | |
| ENST00000389817.7:c.4284C>A | ENSP00000374467.3:p.Pro1428= | |
| ENST00000525022.1:n.283C>A | ||
| ENST00000526037.5:n.148C>A | ||
| ENST00000526168.5:c.72C>A | ||
| ENST00000531642.5:c.120C>A | ||
| NM_000352.4:c.4284C>A | NP_000343.2:p.Pro1428= | |
| NM_001287174.1:c.4287C>A | NP_001274103.1:p.Pro1429= | |
| XM_011520331.1:c.4284C>A | XP_011518633.1:p.Pro1428= | |
| XM_011520332.1:c.4287C>A | XP_011518634.1:p.Pro1429= | |
| XM_011520333.1:c.2784C>A | XP_011518635.1:p.Pro928= | |
| XR_930890.1:n.4350C>A | ||
| NM_001351295.1:c.4350C>A | NP_001338224.1:p.Pro1450= | |
| NM_001351296.1:c.4284C>A | NP_001338225.1:p.Pro1428= | |
| NM_001351297.1:c.4281C>A | NP_001338226.1:p.Pro1427= | |
| NR_147094.1:n.4579C>A | ||
| XM_017018197.2:c.4353C>A | XP_016873686.1:p.Pro1451= | |
| XM_017018199.1:c.4350C>A | XP_016873688.1:p.Pro1450= | |
| XM_017018201.2:c.4353C>A | XP_016873690.1:p.Pro1451= | |
| XM_017018202.1:c.2850C>A | XP_016873691.1:p.Pro950= | |
| XM_017018204.1:c.2241C>A | XP_016873693.1:p.Pro747= | |
| XM_024448668.1:c.2652C>A | XP_024304436.1:p.Pro884= | |
| XR_001747945.2:n.4425C>A | ||
| XR_001747946.2:n.4356C>A | ||
| XR_002957189.1:n.6139C>A | ||
| NM_000352.6:c.4284C>A MANE Select | NP_000343.2:p.Pro1428= | |
| NM_001287174.2:c.4287C>A | NP_001274103.1:p.Pro1429= | |
| NM_001351295.2:c.4350C>A | NP_001338224.1:p.Pro1450= | |
| NM_001351296.2:c.4284C>A | NP_001338225.1:p.Pro1428= | |
| NM_001351297.2:c.4281C>A | NP_001338226.1:p.Pro1427= | |
| NR_147094.2:n.4579C>A | ||
| NM_001287174.3:c.4287C>A | NP_001274103.1:p.Pro1429= |