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.17406959A>T , CM000673.2:g.17406959A>T | GRCh38 |
| NC_000011.9:g.17428506A>T , CM000673.1:g.17428506A>T | GRCh37 |
| NC_000011.8:g.17385082A>T | NCBI36 |
| NG_008867.1:g.74944T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2660T>A | ||
| ENST00000529967.6:n.1430T>A | ||
| ENST00000532220.2:n.823T>A | ||
| ENST00000642611.2:n.3160T>A | ||
| ENST00000645004.2:n.590T>A | ||
| ENST00000682051.1:n.3107T>A | ||
| ENST00000682110.1:n.3160T>A | ||
| ENST00000682140.1:c.3088T>A | ENSP00000507829.1:p.Tyr1030Asn | |
| ENST00000682185.1:n.4396T>A | ||
| ENST00000682204.1:c.*1229T>A | ENSP00000507094.1:n.*1229T>A | |
| ENST00000682215.1:n.3157T>A | ||
| ENST00000682288.1:c.*1522T>A | ENSP00000507506.1:n.*1522T>A | |
| ENST00000682442.1:n.3281T>A | ||
| ENST00000682528.1:n.3237T>A | ||
| ENST00000682673.1:n.3104T>A | ||
| ENST00000682805.1:n.3157T>A | ||
| ENST00000682965.1:c.3088T>A | ENSP00000508229.1:p.Tyr1030Asn | |
| ENST00000683093.1:n.3259T>A | ||
| ENST00000683136.1:c.3088T>A | ENSP00000507768.1:p.Tyr1030Asn | |
| ENST00000683153.1:n.3316T>A | ||
| ENST00000683365.1:n.3262T>A | ||
| ENST00000683377.1:n.3160T>A | ||
| ENST00000683456.1:c.*228T>A | ENSP00000508318.1:n.*228T>A | |
| ENST00000683522.1:n.3160T>A | ||
| ENST00000683562.1:c.*1260T>A | ENSP00000508265.1:n.*1260T>A | |
| ENST00000683693.1:n.3237T>A | ||
| ENST00000683725.1:c.3091T>A | ENSP00000507496.1:p.Tyr1031Asn | |
| ENST00000684010.1:n.3155T>A | ||
| ENST00000684157.1:n.3160T>A | ||
| ENST00000684253.1:n.3063T>A | ||
| ENST00000684288.1:c.*1263T>A | ENSP00000507143.1:n.*1263T>A | |
| ENST00000684313.1:n.2592T>A | ||
| ENST00000684332.1:n.3233T>A | ||
| ENST00000684371.1:n.3266T>A | ||
| ENST00000684404.1:n.3203T>A | ||
| ENST00000684442.1:n.3160T>A | ||
| ENST00000684555.1:c.*1303T>A | ENSP00000507705.1:n.*1303T>A | |
| ENST00000684571.1:c.2932T>A | ENSP00000506935.1:p.Tyr978Asn | |
| ENST00000684593.1:c.*2796T>A | ENSP00000507005.1:n.*2796T>A | |
| ENST00000684711.1:c.*1487T>A | ENSP00000506841.1:n.*1487T>A | |
| ENST00000302539.9:c.3094T>A | ENSP00000303960.4:p.Tyr1032Asn | |
| ENST00000389817.8:c.3091T>A MANE Select | ENSP00000374467.4:p.Tyr1031Asn | |
| ENST00000642271.1:c.3088T>A | ENSP00000493749.1:p.Tyr1030Asn | |
| ENST00000642579.1:c.1175T>A | ||
| ENST00000642611.1:n.3045T>A | ||
| ENST00000642902.1:c.2873T>A | ||
| ENST00000643260.1:c.3091T>A | ENSP00000494450.1:p.Tyr1031Asn | |
| ENST00000643562.1:c.*1067T>A | ENSP00000496124.1:n.*1067T>A | |
| ENST00000643925.1:c.1215T>A | ||
| ENST00000644447.1:c.1447T>A | ENSP00000496282.1:p.Tyr483Asn | |
| ENST00000644484.1:c.*1346T>A | ENSP00000493558.1:n.*1346T>A | |
| ENST00000644542.1:c.*2796T>A | ENSP00000495532.1:n.*2796T>A | |
| ENST00000644675.1:c.*1263T>A | ENSP00000494567.1:n.*1263T>A | |
| ENST00000644757.1:c.*1376T>A | ENSP00000495085.1:n.*1376T>A | |
| ENST00000644772.1:c.3157T>A | ENSP00000494321.1:p.Tyr1053Asn | |
| ENST00000645004.1:n.230T>A | ||
| ENST00000645076.1:c.2290T>A | ||
| ENST00000645417.1:c.257T>A | ||
| ENST00000645744.1:c.*1355T>A | ENSP00000494564.1:n.*1355T>A | |
| ENST00000645760.1:c.3366T>A | ||
| ENST00000645884.1:c.*228T>A | ENSP00000495516.1:n.*228T>A | |
| ENST00000646003.1:c.*1047T>A | ENSP00000495259.1:n.*1047T>A | |
| ENST00000646207.1:c.*1558T>A | ENSP00000495025.1:n.*1558T>A | |
| ENST00000646276.1:c.*1364T>A | ENSP00000496070.1:n.*1364T>A | |
| ENST00000646592.1:c.2397T>A | ||
| ENST00000646902.1:c.3088T>A | ENSP00000494101.1:p.Tyr1030Asn | |
| ENST00000646993.1:c.*1487T>A | ENSP00000493720.1:n.*1487T>A | |
| ENST00000647013.1:c.3097T>A | ENSP00000496741.1:n.3097T>A | |
| ENST00000647015.1:c.2842T>A | ENSP00000495389.1:p.Tyr948Asn | |
| ENST00000647086.1:c.*2821T>A | ENSP00000493677.1:n.*2821T>A | |
| ENST00000647158.1:c.*1232T>A | ENSP00000495744.1:n.*1232T>A | |
| ENST00000302539.8:c.3094T>A | ENSP00000303960.4:p.Tyr1032Asn | |
| ENST00000389817.7:c.3091T>A | ENSP00000374467.3:p.Tyr1031Asn | |
| ENST00000524561.1:n.223T>A | ||
| ENST00000526921.5:n.775T>A | ||
| ENST00000527905.5:c.2961T>A | ENSP00000431653.1:p.Thr987= | |
| ENST00000529967.5:n.760T>A | ||
| NM_000352.4:c.3091T>A | NP_000343.2:p.Tyr1031Asn | |
| NM_001287174.1:c.3094T>A | NP_001274103.1:p.Tyr1032Asn | |
| XM_011520331.1:c.3091T>A | XP_011518633.1:p.Tyr1031Asn | |
| XM_011520332.1:c.3094T>A | XP_011518634.1:p.Tyr1032Asn | |
| XM_011520333.1:c.1591T>A | XP_011518635.1:p.Tyr531Asn | |
| XR_930890.1:n.3157T>A | ||
| XR_930891.1:n.3157T>A | ||
| XR_930892.1:n.3057T>A | ||
| XR_930893.1:n.3054T>A | ||
| NM_001351295.1:c.3157T>A | NP_001338224.1:p.Tyr1053Asn | |
| NM_001351296.1:c.3091T>A | NP_001338225.1:p.Tyr1031Asn | |
| NM_001351297.1:c.3088T>A | NP_001338226.1:p.Tyr1030Asn | |
| NR_147094.1:n.3240T>A | ||
| XM_017018197.2:c.3160T>A | XP_016873686.1:p.Tyr1054Asn | |
| XM_017018199.1:c.3157T>A | XP_016873688.1:p.Tyr1053Asn | |
| XM_017018201.2:c.3160T>A | XP_016873690.1:p.Tyr1054Asn | |
| XM_017018202.1:c.1657T>A | XP_016873691.1:p.Tyr553Asn | |
| XM_017018204.1:c.1048T>A | XP_016873693.1:p.Tyr350Asn | |
| XM_024448668.1:c.1459T>A | XP_024304436.1:p.Tyr487Asn | |
| XR_001747945.2:n.3232T>A | ||
| XR_001747946.2:n.3163T>A | ||
| XR_002957189.1:n.3312T>A | ||
| NM_000352.6:c.3091T>A MANE Select | NP_000343.2:p.Tyr1031Asn | |
| NM_001287174.2:c.3094T>A | NP_001274103.1:p.Tyr1032Asn | |
| NM_001351295.2:c.3157T>A | NP_001338224.1:p.Tyr1053Asn | |
| NM_001351296.2:c.3091T>A | NP_001338225.1:p.Tyr1031Asn | |
| NM_001351297.2:c.3088T>A | NP_001338226.1:p.Tyr1030Asn | |
| NR_147094.2:n.3240T>A | ||
| NM_001287174.3:c.3094T>A | NP_001274103.1:p.Tyr1032Asn |