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.17408450C>G , CM000673.2:g.17408450C>G | GRCh38 |
| NC_000011.9:g.17429997C>G , CM000673.1:g.17429997C>G | GRCh37 |
| NC_000011.8:g.17386573C>G | NCBI36 |
| NG_008867.1:g.73453G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2431G>C | ||
| ENST00000529967.6:n.1021G>C | ||
| ENST00000532220.2:n.494G>C | ||
| ENST00000642611.2:n.2831G>C | ||
| ENST00000682051.1:n.2778G>C | ||
| ENST00000682110.1:n.2831G>C | ||
| ENST00000682140.1:c.2759G>C | ENSP00000507829.1:p.Cys920Ser | |
| ENST00000682185.1:n.4067G>C | ||
| ENST00000682204.1:c.*900G>C | ENSP00000507094.1:n.*900G>C | |
| ENST00000682215.1:n.2828G>C | ||
| ENST00000682288.1:c.*1193G>C | ENSP00000507506.1:n.*1193G>C | |
| ENST00000682442.1:n.2952G>C | ||
| ENST00000682528.1:n.2828G>C | ||
| ENST00000682673.1:n.2775G>C | ||
| ENST00000682805.1:n.2828G>C | ||
| ENST00000682965.1:c.2759G>C | ENSP00000508229.1:p.Cys920Ser | |
| ENST00000683093.1:n.2930G>C | ||
| ENST00000683136.1:c.2759G>C | ENSP00000507768.1:p.Cys920Ser | |
| ENST00000683153.1:n.2987G>C | ||
| ENST00000683365.1:n.2933G>C | ||
| ENST00000683377.1:n.2831G>C | ||
| ENST00000683456.1:c.2762G>C | ENSP00000508318.1:p.Cys921Ser | |
| ENST00000683522.1:n.2831G>C | ||
| ENST00000683562.1:c.*931G>C | ENSP00000508265.1:n.*931G>C | |
| ENST00000683693.1:n.2828G>C | ||
| ENST00000683725.1:c.2762G>C | ENSP00000507496.1:p.Cys921Ser | |
| ENST00000684010.1:n.2746G>C | ||
| ENST00000684157.1:n.2831G>C | ||
| ENST00000684253.1:n.2734G>C | ||
| ENST00000684288.1:c.*934G>C | ENSP00000507143.1:n.*934G>C | |
| ENST00000684313.1:n.2263G>C | ||
| ENST00000684332.1:n.2904G>C | ||
| ENST00000684371.1:n.2937G>C | ||
| ENST00000684404.1:n.2828G>C | ||
| ENST00000684442.1:n.2831G>C | ||
| ENST00000684555.1:c.*974G>C | ENSP00000507705.1:n.*974G>C | |
| ENST00000684571.1:c.2603G>C | ENSP00000506935.1:p.Cys868Ser | |
| ENST00000684593.1:c.*2467G>C | ENSP00000507005.1:n.*2467G>C | |
| ENST00000684711.1:c.*1158G>C | ENSP00000506841.1:n.*1158G>C | |
| ENST00000302539.9:c.2765G>C | ENSP00000303960.4:p.Cys922Ser | |
| ENST00000389817.8:c.2762G>C MANE Select | ENSP00000374467.4:p.Cys921Ser | |
| ENST00000642271.1:c.2759G>C | ENSP00000493749.1:p.Cys920Ser | |
| ENST00000642579.1:c.846G>C | ||
| ENST00000642611.1:n.2716G>C | ||
| ENST00000642902.1:c.2597G>C | ||
| ENST00000643260.1:c.2762G>C | ENSP00000494450.1:p.Cys921Ser | |
| ENST00000643562.1:c.*738G>C | ENSP00000496124.1:n.*738G>C | |
| ENST00000643925.1:c.806G>C | ||
| ENST00000644447.1:c.1118G>C | ENSP00000496282.1:p.Cys373Ser | |
| ENST00000644472.1:c.*1123G>C | ENSP00000495378.1:n.*1123G>C | |
| ENST00000644484.1:c.*971G>C | ENSP00000493558.1:n.*971G>C | |
| ENST00000644542.1:c.*2467G>C | ENSP00000495532.1:n.*2467G>C | |
| ENST00000644675.1:c.*934G>C | ENSP00000494567.1:n.*934G>C | |
| ENST00000644757.1:c.*1067G>C | ENSP00000495085.1:n.*1067G>C | |
| ENST00000644772.1:c.2828G>C | ENSP00000494321.1:p.Cys943Ser | |
| ENST00000645076.1:c.2014G>C | ||
| ENST00000645744.1:c.*1126G>C | ENSP00000494564.1:n.*1126G>C | |
| ENST00000645760.1:c.3037G>C | ||
| ENST00000645884.1:c.2762G>C | ENSP00000495516.1:p.Cys921Ser | |
| ENST00000646003.1:c.*818G>C | ENSP00000495259.1:n.*818G>C | |
| ENST00000646207.1:c.*1126G>C | ENSP00000495025.1:n.*1126G>C | |
| ENST00000646276.1:c.*1035G>C | ENSP00000496070.1:n.*1035G>C | |
| ENST00000646592.1:c.1988G>C | ||
| ENST00000646902.1:c.2759G>C | ENSP00000494101.1:p.Cys920Ser | |
| ENST00000646993.1:c.*1158G>C | ENSP00000493720.1:n.*1158G>C | |
| ENST00000647013.1:c.2768G>C | ENSP00000496741.1:n.2768G>C | |
| ENST00000647015.1:c.2513G>C | ENSP00000495389.1:p.Cys838Ser | |
| ENST00000647086.1:c.*2492G>C | ENSP00000493677.1:n.*2492G>C | |
| ENST00000647158.1:c.*903G>C | ENSP00000495744.1:n.*903G>C | |
| ENST00000302539.8:c.2765G>C | ENSP00000303960.4:p.Cys922Ser | |
| ENST00000389817.7:c.2762G>C | ENSP00000374467.3:p.Cys921Ser | |
| ENST00000526921.5:n.446G>C | ||
| ENST00000527905.5:c.2732G>C | ENSP00000431653.1:p.Cys911Ser | |
| ENST00000529967.5:n.431G>C | ||
| NM_000352.4:c.2762G>C | NP_000343.2:p.Cys921Ser | |
| NM_001287174.1:c.2765G>C | NP_001274103.1:p.Cys922Ser | |
| XM_011520331.1:c.2762G>C | XP_011518633.1:p.Cys921Ser | |
| XM_011520332.1:c.2765G>C | XP_011518634.1:p.Cys922Ser | |
| XM_011520333.1:c.1262G>C | XP_011518635.1:p.Cys421Ser | |
| XM_011520334.1:c.2765G>C | XP_011518636.1:p.Cys922Ser | |
| XR_930890.1:n.2828G>C | ||
| XR_930891.1:n.2828G>C | ||
| XR_930892.1:n.2828G>C | ||
| XR_930893.1:n.2825G>C | ||
| NM_001351295.1:c.2828G>C | NP_001338224.1:p.Cys943Ser | |
| NM_001351296.1:c.2762G>C | NP_001338225.1:p.Cys921Ser | |
| NM_001351297.1:c.2759G>C | NP_001338226.1:p.Cys920Ser | |
| NR_147094.1:n.2831G>C | ||
| XM_017018197.2:c.2831G>C | XP_016873686.1:p.Cys944Ser | |
| XM_017018199.1:c.2828G>C | XP_016873688.1:p.Cys943Ser | |
| XM_017018201.2:c.2831G>C | XP_016873690.1:p.Cys944Ser | |
| XM_017018202.1:c.1328G>C | XP_016873691.1:p.Cys443Ser | |
| XM_017018204.1:c.719G>C | XP_016873693.1:p.Cys240Ser | |
| XM_024448668.1:c.1130G>C | XP_024304436.1:p.Cys377Ser | |
| XR_001747945.2:n.2903G>C | ||
| XR_001747946.2:n.2834G>C | ||
| XR_002957189.1:n.2903G>C | ||
| NM_000352.6:c.2762G>C MANE Select | NP_000343.2:p.Cys921Ser | |
| NM_001287174.2:c.2765G>C | NP_001274103.1:p.Cys922Ser | |
| NM_001351295.2:c.2828G>C | NP_001338224.1:p.Cys943Ser | |
| NM_001351296.2:c.2762G>C | NP_001338225.1:p.Cys921Ser | |
| NM_001351297.2:c.2759G>C | NP_001338226.1:p.Cys920Ser | |
| NR_147094.2:n.2831G>C | ||
| NM_001287174.3:c.2765G>C | NP_001274103.1:p.Cys922Ser |