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.17396933T>A , CM000673.2:g.17396933T>A | GRCh38 |
| NC_000011.9:g.17418480T>A , CM000673.1:g.17418480T>A | GRCh37 |
| NC_000011.8:g.17375056T>A | NCBI36 |
| NG_008867.1:g.84970A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3703A>T | ||
| ENST00000528374.2:c.693A>T | ||
| ENST00000529967.6:n.2441A>T | ||
| ENST00000532220.2:n.2350A>T | ||
| ENST00000642611.2:n.4317A>T | ||
| ENST00000644057.2:n.545A>T | ||
| ENST00000645004.2:n.1601A>T | ||
| ENST00000682051.1:n.4264A>T | ||
| ENST00000682110.1:n.4317A>T | ||
| ENST00000682140.1:c.3985+260A>T | ENSP00000507829.1:n.3985+260A>T | |
| ENST00000682185.1:n.5407A>T | ||
| ENST00000682204.1:c.*2240A>T | ENSP00000507094.1:n.*2240A>T | |
| ENST00000682215.1:n.4684A>T | ||
| ENST00000682288.1:c.*2533A>T | ENSP00000507506.1:n.*2533A>T | |
| ENST00000682442.1:n.4537A>T | ||
| ENST00000682528.1:n.4394A>T | ||
| ENST00000682673.1:n.4261A>T | ||
| ENST00000682805.1:n.4684A>T | ||
| ENST00000682965.1:c.*524A>T | ENSP00000508229.1:n.*524A>T | |
| ENST00000683093.1:n.4416A>T | ||
| ENST00000683136.1:c.3985A>T | ENSP00000507768.1:p.Ile1329Phe | |
| ENST00000683153.1:n.4359A>T | ||
| ENST00000683365.1:n.4419A>T | ||
| ENST00000683377.1:n.4317A>T | ||
| ENST00000683456.1:c.*1239A>T | ENSP00000508318.1:n.*1239A>T | |
| ENST00000683522.1:n.4317A>T | ||
| ENST00000683562.1:c.*2271A>T | ENSP00000508265.1:n.*2271A>T | |
| ENST00000683693.1:n.4764A>T | ||
| ENST00000683725.1:c.4102A>T | ENSP00000507496.1:p.Ile1368Phe | |
| ENST00000684010.1:n.4312A>T | ||
| ENST00000684157.1:n.4317A>T | ||
| ENST00000684253.1:n.4220A>T | ||
| ENST00000684288.1:c.*2274A>T | ENSP00000507143.1:n.*2274A>T | |
| ENST00000684313.1:n.3749A>T | ||
| ENST00000684332.1:n.4390A>T | ||
| ENST00000684371.1:n.4423A>T | ||
| ENST00000684404.1:n.4360A>T | ||
| ENST00000684442.1:n.4541A>T | ||
| ENST00000684555.1:c.*2314A>T | ENSP00000507705.1:n.*2314A>T | |
| ENST00000684571.1:c.3943A>T | ENSP00000506935.1:p.Ile1315Phe | |
| ENST00000684593.1:c.*3807A>T | ENSP00000507005.1:n.*3807A>T | |
| ENST00000684711.1:c.*2498A>T | ENSP00000506841.1:n.*2498A>T | |
| ENST00000302539.9:c.4105A>T | ENSP00000303960.4:p.Ile1369Phe | |
| ENST00000389817.8:c.4102A>T MANE Select | ENSP00000374467.4:p.Ile1368Phe | |
| ENST00000642271.1:c.4099A>T | ENSP00000493749.1:p.Ile1367Phe | |
| ENST00000642579.1:c.2156A>T | ||
| ENST00000642611.1:n.4202A>T | ||
| ENST00000642902.1:c.3884A>T | ||
| ENST00000643260.1:c.4102A>T | ENSP00000494450.1:p.Ile1368Phe | |
| ENST00000643562.1:c.*2224A>T | ENSP00000496124.1:n.*2224A>T | |
| ENST00000643925.1:c.2742A>T | ||
| ENST00000644057.1:n.179A>T | ||
| ENST00000644484.1:c.*2503A>T | ENSP00000493558.1:n.*2503A>T | |
| ENST00000644675.1:c.*2274A>T | ENSP00000494567.1:n.*2274A>T | |
| ENST00000644757.1:c.*2533A>T | ENSP00000495085.1:n.*2533A>T | |
| ENST00000644772.1:c.4168A>T | ENSP00000494321.1:p.Ile1390Phe | |
| ENST00000645004.1:n.1757A>T | ||
| ENST00000645076.1:c.3301A>T | ||
| ENST00000645417.1:c.1290A>T | ||
| ENST00000645744.1:c.*2882A>T | ENSP00000494564.1:n.*2882A>T | |
| ENST00000645760.1:c.4523A>T | ||
| ENST00000645884.1:c.*1385A>T | ENSP00000495516.1:n.*1385A>T | |
| ENST00000646003.1:c.*2204A>T | ENSP00000495259.1:n.*2204A>T | |
| ENST00000646207.1:c.*2939A>T | ENSP00000495025.1:n.*2939A>T | |
| ENST00000646276.1:c.*2521A>T | ENSP00000496070.1:n.*2521A>T | |
| ENST00000646592.1:c.3408A>T | ||
| ENST00000646902.1:c.4069A>T | ENSP00000494101.1:p.Ile1357Phe | |
| ENST00000646993.1:c.*2644A>T | ENSP00000493720.1:n.*2644A>T | |
| ENST00000647013.1:c.4108A>T | ENSP00000496741.1:n.4108A>T | |
| ENST00000647015.1:c.3853A>T | ENSP00000495389.1:p.Ile1285Phe | |
| ENST00000647086.1:c.*3688A>T | ENSP00000493677.1:n.*3688A>T | |
| ENST00000647158.1:c.*2389A>T | ENSP00000495744.1:n.*2389A>T | |
| ENST00000302539.8:c.4105A>T | ENSP00000303960.4:p.Ile1369Phe | |
| ENST00000389817.7:c.4102A>T | ENSP00000374467.3:p.Ile1368Phe | |
| ENST00000527905.5:c.*1124A>T | ENSP00000431653.1:n.*1124A>T | |
| ENST00000528374.1:c.584A>T | ||
| ENST00000531891.1:c.440A>T | ||
| ENST00000532220.1:n.576A>T | ||
| NM_000352.4:c.4102A>T | NP_000343.2:p.Ile1368Phe | |
| NM_001287174.1:c.4105A>T | NP_001274103.1:p.Ile1369Phe | |
| XM_011520331.1:c.4102A>T | XP_011518633.1:p.Ile1368Phe | |
| XM_011520332.1:c.4105A>T | XP_011518634.1:p.Ile1369Phe | |
| XM_011520333.1:c.2602A>T | XP_011518635.1:p.Ile868Phe | |
| XR_930890.1:n.4168A>T | ||
| NM_001351295.1:c.4168A>T | NP_001338224.1:p.Ile1390Phe | |
| NM_001351296.1:c.4102A>T | NP_001338225.1:p.Ile1368Phe | |
| NM_001351297.1:c.4099A>T | NP_001338226.1:p.Ile1367Phe | |
| NR_147094.1:n.4397A>T | ||
| XM_017018197.2:c.4171A>T | XP_016873686.1:p.Ile1391Phe | |
| XM_017018199.1:c.4168A>T | XP_016873688.1:p.Ile1390Phe | |
| XM_017018201.2:c.4171A>T | XP_016873690.1:p.Ile1391Phe | |
| XM_017018202.1:c.2668A>T | XP_016873691.1:p.Ile890Phe | |
| XM_017018204.1:c.2059A>T | XP_016873693.1:p.Ile687Phe | |
| XM_024448668.1:c.2470A>T | XP_024304436.1:p.Ile824Phe | |
| XR_001747945.2:n.4243A>T | ||
| XR_001747946.2:n.4174A>T | ||
| XR_002957189.1:n.4839A>T | ||
| NM_000352.6:c.4102A>T MANE Select | NP_000343.2:p.Ile1368Phe | |
| NM_001287174.2:c.4105A>T | NP_001274103.1:p.Ile1369Phe | |
| NM_001351295.2:c.4168A>T | NP_001338224.1:p.Ile1390Phe | |
| NM_001351296.2:c.4102A>T | NP_001338225.1:p.Ile1368Phe | |
| NM_001351297.2:c.4099A>T | NP_001338226.1:p.Ile1367Phe | |
| NR_147094.2:n.4397A>T | ||
| NM_001287174.3:c.4105A>T | NP_001274103.1:p.Ile1369Phe |