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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395715T>G , CM000673.2:g.17395715T>G | GRCh38 |
| NC_000011.9:g.17417262T>G , CM000673.1:g.17417262T>G | GRCh37 |
| NC_000011.8:g.17373838T>G | NCBI36 |
| NG_008867.1:g.86188A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3803A>C | ||
| ENST00000528374.2:c.793A>C | ||
| ENST00000529967.6:n.2541A>C | ||
| ENST00000532220.2:n.3435A>C | ||
| ENST00000642611.2:n.5535A>C | ||
| ENST00000644057.2:n.778A>C | ||
| ENST00000645004.2:n.1701A>C | ||
| ENST00000682051.1:n.4364A>C | ||
| ENST00000682110.1:n.4417A>C | ||
| ENST00000682140.1:c.4068A>C | ENSP00000507829.1:p.Ala1356= | |
| ENST00000682185.1:n.5507A>C | ||
| ENST00000682204.1:c.*2340A>C | ENSP00000507094.1:n.*2340A>C | |
| ENST00000682215.1:n.4784A>C | ||
| ENST00000682288.1:c.*2633A>C | ENSP00000507506.1:n.*2633A>C | |
| ENST00000682442.1:n.4637A>C | ||
| ENST00000682528.1:n.4494A>C | ||
| ENST00000682673.1:n.4361A>C | ||
| ENST00000682805.1:n.4822A>C | ||
| ENST00000682965.1:c.*624A>C | ENSP00000508229.1:n.*624A>C | |
| ENST00000683093.1:n.5501A>C | ||
| ENST00000683136.1:c.4085A>C | ENSP00000507768.1:p.His1362Pro | |
| ENST00000683153.1:n.4459A>C | ||
| ENST00000683365.1:n.4519A>C | ||
| ENST00000683377.1:n.4417A>C | ||
| ENST00000683456.1:c.*1339A>C | ENSP00000508318.1:n.*1339A>C | |
| ENST00000683522.1:n.4417A>C | ||
| ENST00000683562.1:c.*2371A>C | ENSP00000508265.1:n.*2371A>C | |
| ENST00000683693.1:n.5982A>C | ||
| ENST00000683725.1:c.4202A>C | ENSP00000507496.1:p.His1401Pro | |
| ENST00000684010.1:n.4412A>C | ||
| ENST00000684157.1:n.5402A>C | ||
| ENST00000684253.1:n.4320A>C | ||
| ENST00000684288.1:c.*2374A>C | ENSP00000507143.1:n.*2374A>C | |
| ENST00000684313.1:n.3849A>C | ||
| ENST00000684332.1:n.4490A>C | ||
| ENST00000684371.1:n.4523A>C | ||
| ENST00000684404.1:n.5445A>C | ||
| ENST00000684442.1:n.4641A>C | ||
| ENST00000684555.1:c.*2414A>C | ENSP00000507705.1:n.*2414A>C | |
| ENST00000684571.1:c.4043A>C | ENSP00000506935.1:p.His1348Pro | |
| ENST00000684593.1:c.*3907A>C | ENSP00000507005.1:n.*3907A>C | |
| ENST00000684711.1:c.*2598A>C | ENSP00000506841.1:n.*2598A>C | |
| ENST00000302539.9:c.4205A>C | ENSP00000303960.4:p.His1402Pro | |
| ENST00000389817.8:c.4202A>C MANE Select | ENSP00000374467.4:p.His1401Pro | |
| ENST00000642271.1:c.4199A>C | ENSP00000493749.1:p.His1400Pro | |
| ENST00000642579.1:c.2256A>C | ||
| ENST00000642611.1:n.5420A>C | ||
| ENST00000642902.1:c.3984A>C | ||
| ENST00000643260.1:c.4202A>C | ENSP00000494450.1:p.His1401Pro | |
| ENST00000643562.1:c.*2324A>C | ENSP00000496124.1:n.*2324A>C | |
| ENST00000643925.1:c.2842A>C | ||
| ENST00000644057.1:n.279A>C | ||
| ENST00000644484.1:c.*3588A>C | ENSP00000493558.1:n.*3588A>C | |
| ENST00000644675.1:c.*2374A>C | ENSP00000494567.1:n.*2374A>C | |
| ENST00000644757.1:c.*3202+549A>C | ENSP00000495085.1:n.*3202+549A>C | |
| ENST00000644772.1:c.4268A>C | ENSP00000494321.1:p.His1423Pro | |
| ENST00000645004.1:n.1895A>C | ||
| ENST00000645076.1:c.3401A>C | ||
| ENST00000645417.1:c.1390A>C | ||
| ENST00000645744.1:c.*3964-77A>C | ENSP00000494564.1:n.*3964-77A>C | |
| ENST00000645760.1:c.4623A>C | ||
| ENST00000645884.1:c.*1485A>C | ENSP00000495516.1:n.*1485A>C | |
| ENST00000646003.1:c.*2301-77A>C | ENSP00000495259.1:n.*2301-77A>C | |
| ENST00000646207.1:c.*3039A>C | ENSP00000495025.1:n.*3039A>C | |
| ENST00000646276.1:c.*3606A>C | ENSP00000496070.1:n.*3606A>C | |
| ENST00000646592.1:c.3508A>C | ||
| ENST00000646902.1:c.4169A>C | ENSP00000494101.1:p.His1390Pro | |
| ENST00000646993.1:c.*2744A>C | ENSP00000493720.1:n.*2744A>C | |
| ENST00000647013.1:c.4208A>C | ENSP00000496741.1:n.4208A>C | |
| ENST00000647015.1:c.3953A>C | ENSP00000495389.1:p.His1318Pro | |
| ENST00000647086.1:c.*3788A>C | ENSP00000493677.1:n.*3788A>C | |
| ENST00000647158.1:c.*2489A>C | ENSP00000495744.1:n.*2489A>C | |
| ENST00000302539.8:c.4205A>C | ENSP00000303960.4:p.His1402Pro | |
| ENST00000389817.7:c.4202A>C | ENSP00000374467.3:p.His1401Pro | |
| ENST00000525022.1:n.201A>C | ||
| ENST00000526037.5:n.66A>C | ||
| ENST00000526168.5:c.67-77A>C | ||
| ENST00000531642.5:c.38A>C | ||
| NM_000352.4:c.4202A>C | NP_000343.2:p.His1401Pro | |
| NM_001287174.1:c.4205A>C | NP_001274103.1:p.His1402Pro | |
| XM_011520331.1:c.4202A>C | XP_011518633.1:p.His1401Pro | |
| XM_011520332.1:c.4205A>C | XP_011518634.1:p.His1402Pro | |
| XM_011520333.1:c.2702A>C | XP_011518635.1:p.His901Pro | |
| XR_930890.1:n.4268A>C | ||
| NM_001351295.1:c.4268A>C | NP_001338224.1:p.His1423Pro | |
| NM_001351296.1:c.4202A>C | NP_001338225.1:p.His1401Pro | |
| NM_001351297.1:c.4199A>C | NP_001338226.1:p.His1400Pro | |
| NR_147094.1:n.4497A>C | ||
| XM_017018197.2:c.4271A>C | XP_016873686.1:p.His1424Pro | |
| XM_017018199.1:c.4268A>C | XP_016873688.1:p.His1423Pro | |
| XM_017018201.2:c.4271A>C | XP_016873690.1:p.His1424Pro | |
| XM_017018202.1:c.2768A>C | XP_016873691.1:p.His923Pro | |
| XM_017018204.1:c.2159A>C | XP_016873693.1:p.His720Pro | |
| XM_024448668.1:c.2570A>C | XP_024304436.1:p.His857Pro | |
| XR_001747945.2:n.4343A>C | ||
| XR_001747946.2:n.4274A>C | ||
| XR_002957189.1:n.6057A>C | ||
| NM_000352.6:c.4202A>C MANE Select | NP_000343.2:p.His1401Pro | |
| NM_001287174.2:c.4205A>C | NP_001274103.1:p.His1402Pro | |
| NM_001351295.2:c.4268A>C | NP_001338224.1:p.His1423Pro | |
| NM_001351296.2:c.4202A>C | NP_001338225.1:p.His1401Pro | |
| NM_001351297.2:c.4199A>C | NP_001338226.1:p.His1400Pro | |
| NR_147094.2:n.4497A>C | ||
| NM_001287174.3:c.4205A>C | NP_001274103.1:p.His1402Pro |