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
gnomAD v4:
11-17394286-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17394286C>T , CM000673.2:g.17394286C>T | GRCh38 |
| NC_000011.9:g.17415833C>T , CM000673.1:g.17415833C>T | GRCh37 |
| NC_000011.8:g.17372409C>T | NCBI36 |
| NG_008867.1:g.87617G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4126G>A | ||
| ENST00000526037.6:n.460G>A | ||
| ENST00000528374.2:c.1116G>A | ||
| ENST00000529967.6:n.2864G>A | ||
| ENST00000532220.2:n.3758G>A | ||
| ENST00000642611.2:n.5858G>A | ||
| ENST00000644057.2:n.1101G>A | ||
| ENST00000645004.2:n.2024G>A | ||
| ENST00000682051.1:n.4687G>A | ||
| ENST00000682110.1:n.4740G>A | ||
| ENST00000682140.1:c.*311G>A | ENSP00000507829.1:n.*311G>A | |
| ENST00000682185.1:n.5830G>A | ||
| ENST00000682204.1:c.*2663G>A | ENSP00000507094.1:n.*2663G>A | |
| ENST00000682215.1:n.5107G>A | ||
| ENST00000682288.1:c.*2956G>A | ENSP00000507506.1:n.*2956G>A | |
| ENST00000682442.1:n.4960G>A | ||
| ENST00000682528.1:n.4817G>A | ||
| ENST00000682673.1:n.4684G>A | ||
| ENST00000682805.1:n.5145G>A | ||
| ENST00000682965.1:c.*947G>A | ENSP00000508229.1:n.*947G>A | |
| ENST00000683093.1:n.5720G>A | ||
| ENST00000683136.1:c.4408G>A | ENSP00000507768.1:p.Ala1470Thr | |
| ENST00000683153.1:n.4782G>A | ||
| ENST00000683365.1:n.4842G>A | ||
| ENST00000683377.1:n.4636G>A | ||
| ENST00000683456.1:c.*1662G>A | ENSP00000508318.1:n.*1662G>A | |
| ENST00000683522.1:n.4822G>A | ||
| ENST00000683562.1:c.*2590G>A | ENSP00000508265.1:n.*2590G>A | |
| ENST00000683693.1:n.6201G>A | ||
| ENST00000683725.1:c.4421G>A | ENSP00000507496.1:p.Gly1474Asp | |
| ENST00000684010.1:n.4735G>A | ||
| ENST00000684014.1:n.712G>A | ||
| ENST00000684157.1:n.5725G>A | ||
| ENST00000684253.1:n.4643G>A | ||
| ENST00000684288.1:c.*2697G>A | ENSP00000507143.1:n.*2697G>A | |
| ENST00000684313.1:n.4172G>A | ||
| ENST00000684332.1:n.4813G>A | ||
| ENST00000684371.1:n.4846G>A | ||
| ENST00000684404.1:n.5768G>A | ||
| ENST00000684442.1:n.4964G>A | ||
| ENST00000684555.1:c.*2737G>A | ENSP00000507705.1:n.*2737G>A | |
| ENST00000684571.1:c.4366G>A | ENSP00000506935.1:p.Ala1456Thr | |
| ENST00000684593.1:c.*4230G>A | ENSP00000507005.1:n.*4230G>A | |
| ENST00000684711.1:c.*2921G>A | ENSP00000506841.1:n.*2921G>A | |
| ENST00000302539.9:c.4528G>A | ENSP00000303960.4:p.Ala1510Thr | |
| ENST00000389817.8:c.4525G>A MANE Select | ENSP00000374467.4:p.Ala1509Thr | |
| ENST00000642271.1:c.4522G>A | ENSP00000493749.1:p.Ala1508Thr | |
| ENST00000642579.1:c.2579G>A | ||
| ENST00000642611.1:n.5743G>A | ||
| ENST00000642902.1:c.4307G>A | ||
| ENST00000643260.1:c.4525G>A | ENSP00000494450.1:p.Ala1509Thr | |
| ENST00000643562.1:c.*2647G>A | ENSP00000496124.1:n.*2647G>A | |
| ENST00000643925.1:c.3165G>A | ||
| ENST00000644057.1:n.684G>A | ||
| ENST00000644484.1:c.*3911G>A | ENSP00000493558.1:n.*3911G>A | |
| ENST00000644675.1:c.*2697G>A | ENSP00000494567.1:n.*2697G>A | |
| ENST00000644757.1:c.*3203-1306G>A | ENSP00000495085.1:n.*3203-1306G>A | |
| ENST00000644772.1:c.4591G>A | ENSP00000494321.1:p.Ala1531Thr | |
| ENST00000645004.1:n.2218G>A | ||
| ENST00000645076.1:c.3620G>A | ||
| ENST00000645417.1:c.1713G>A | ||
| ENST00000645744.1:c.*4210G>A | ENSP00000494564.1:n.*4210G>A | |
| ENST00000645760.1:c.4946G>A | ||
| ENST00000645884.1:c.*1808G>A | ENSP00000495516.1:n.*1808G>A | |
| ENST00000646003.1:c.*2547G>A | ENSP00000495259.1:n.*2547G>A | |
| ENST00000646207.1:c.*3362G>A | ENSP00000495025.1:n.*3362G>A | |
| ENST00000646276.1:c.*3929G>A | ENSP00000496070.1:n.*3929G>A | |
| ENST00000646592.1:c.3831G>A | ||
| ENST00000646902.1:c.4492G>A | ENSP00000494101.1:p.Ala1498Thr | |
| ENST00000646993.1:c.*2963G>A | ENSP00000493720.1:n.*2963G>A | |
| ENST00000647015.1:c.4276G>A | ENSP00000495389.1:p.Ala1426Thr | |
| ENST00000647086.1:c.*4111G>A | ENSP00000493677.1:n.*4111G>A | |
| ENST00000647158.1:c.*2812G>A | ENSP00000495744.1:n.*2812G>A | |
| ENST00000302539.8:c.4528G>A | ENSP00000303960.4:p.Ala1510Thr | |
| ENST00000389817.7:c.4525G>A | ENSP00000374467.3:p.Ala1509Thr | |
| ENST00000525022.1:n.420G>A | ||
| ENST00000526037.5:n.285G>A | ||
| ENST00000526168.5:c.313G>A | ||
| ENST00000531642.5:c.556G>A | ||
| NM_000352.4:c.4525G>A | NP_000343.2:p.Ala1509Thr | |
| NM_001287174.1:c.4528G>A | NP_001274103.1:p.Ala1510Thr | |
| XM_011520331.1:c.4525G>A | XP_011518633.1:p.Ala1509Thr | |
| XM_011520332.1:c.4424G>A | XP_011518634.1:p.Gly1475Asp | |
| XM_011520333.1:c.3025G>A | XP_011518635.1:p.Ala1009Thr | |
| XR_930890.1:n.4487G>A | ||
| NM_001351295.1:c.4591G>A | NP_001338224.1:p.Ala1531Thr | |
| NM_001351296.1:c.4525G>A | NP_001338225.1:p.Ala1509Thr | |
| NM_001351297.1:c.4522G>A | NP_001338226.1:p.Ala1508Thr | |
| NR_147094.1:n.4820G>A | ||
| XM_017018197.2:c.4594G>A | XP_016873686.1:p.Ala1532Thr | |
| XM_017018199.1:c.4591G>A | XP_016873688.1:p.Ala1531Thr | |
| XM_017018201.2:c.4490G>A | XP_016873690.1:p.Gly1497Asp | |
| XM_017018202.1:c.3091G>A | XP_016873691.1:p.Ala1031Thr | |
| XM_017018204.1:c.2482G>A | XP_016873693.1:p.Ala828Thr | |
| XM_024448668.1:c.2893G>A | XP_024304436.1:p.Ala965Thr | |
| XR_001747945.2:n.4562G>A | ||
| XR_001747946.2:n.4493G>A | ||
| XR_002957189.1:n.6276G>A | ||
| NM_000352.6:c.4525G>A MANE Select | NP_000343.2:p.Ala1509Thr | |
| NM_001287174.2:c.4528G>A | NP_001274103.1:p.Ala1510Thr | |
| NM_001351295.2:c.4591G>A | NP_001338224.1:p.Ala1531Thr | |
| NM_001351296.2:c.4525G>A | NP_001338225.1:p.Ala1509Thr | |
| NM_001351297.2:c.4522G>A | NP_001338226.1:p.Ala1508Thr | |
| NR_147094.2:n.4820G>A | ||
| NM_001287174.3:c.4528G>A | NP_001274103.1:p.Ala1510Thr |