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.17404569A>G , CM000673.2:g.17404569A>G | GRCh38 |
| NC_000011.9:g.17426116A>G , CM000673.1:g.17426116A>G | GRCh37 |
| NC_000011.8:g.17382692A>G | NCBI36 |
| NG_008867.1:g.77334T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3069T>C | ||
| ENST00000528374.2:c.79T>C | ||
| ENST00000529967.6:n.1839T>C | ||
| ENST00000532220.2:n.1232T>C | ||
| ENST00000642611.2:n.3569T>C | ||
| ENST00000645004.2:n.999T>C | ||
| ENST00000682051.1:n.3516T>C | ||
| ENST00000682110.1:n.3569T>C | ||
| ENST00000682140.1:c.3497T>C | ENSP00000507829.1:p.Leu1166Pro | |
| ENST00000682185.1:n.4805T>C | ||
| ENST00000682204.1:c.*1638T>C | ENSP00000507094.1:n.*1638T>C | |
| ENST00000682215.1:n.3566T>C | ||
| ENST00000682288.1:c.*1931T>C | ENSP00000507506.1:n.*1931T>C | |
| ENST00000682442.1:n.3789T>C | ||
| ENST00000682528.1:n.3646T>C | ||
| ENST00000682673.1:n.3513T>C | ||
| ENST00000682805.1:n.3566T>C | ||
| ENST00000682965.1:c.3396+925T>C | ENSP00000508229.1:n.3396+925T>C | |
| ENST00000683093.1:n.3668T>C | ||
| ENST00000683136.1:c.3497T>C | ENSP00000507768.1:p.Leu1166Pro | |
| ENST00000683153.1:n.3725T>C | ||
| ENST00000683365.1:n.3671T>C | ||
| ENST00000683377.1:n.3569T>C | ||
| ENST00000683456.1:c.*637T>C | ENSP00000508318.1:n.*637T>C | |
| ENST00000683522.1:n.3569T>C | ||
| ENST00000683562.1:c.*1669T>C | ENSP00000508265.1:n.*1669T>C | |
| ENST00000683693.1:n.3646T>C | ||
| ENST00000683725.1:c.3500T>C | ENSP00000507496.1:p.Leu1167Pro | |
| ENST00000684010.1:n.3564T>C | ||
| ENST00000684157.1:n.3569T>C | ||
| ENST00000684253.1:n.3472T>C | ||
| ENST00000684288.1:c.*1672T>C | ENSP00000507143.1:n.*1672T>C | |
| ENST00000684313.1:n.3001T>C | ||
| ENST00000684332.1:n.3642T>C | ||
| ENST00000684371.1:n.3675T>C | ||
| ENST00000684404.1:n.3612T>C | ||
| ENST00000684442.1:n.3569T>C | ||
| ENST00000684555.1:c.*1712T>C | ENSP00000507705.1:n.*1712T>C | |
| ENST00000684571.1:c.3341T>C | ENSP00000506935.1:p.Leu1114Pro | |
| ENST00000684593.1:c.*3205T>C | ENSP00000507005.1:n.*3205T>C | |
| ENST00000684711.1:c.*1896T>C | ENSP00000506841.1:n.*1896T>C | |
| ENST00000302539.9:c.3503T>C | ENSP00000303960.4:p.Leu1168Pro | |
| ENST00000389817.8:c.3500T>C MANE Select | ENSP00000374467.4:p.Leu1167Pro | |
| ENST00000642271.1:c.3497T>C | ENSP00000493749.1:p.Leu1166Pro | |
| ENST00000642579.1:c.1584T>C | ||
| ENST00000642611.1:n.3454T>C | ||
| ENST00000642902.1:c.3282T>C | ||
| ENST00000643260.1:c.3500T>C | ENSP00000494450.1:p.Leu1167Pro | |
| ENST00000643562.1:c.*1476T>C | ENSP00000496124.1:n.*1476T>C | |
| ENST00000643925.1:c.1624T>C | ||
| ENST00000644447.1:c.1856T>C | ENSP00000496282.1:p.Leu619Pro | |
| ENST00000644484.1:c.*1755T>C | ENSP00000493558.1:n.*1755T>C | |
| ENST00000644675.1:c.*1672T>C | ENSP00000494567.1:n.*1672T>C | |
| ENST00000644757.1:c.*1785T>C | ENSP00000495085.1:n.*1785T>C | |
| ENST00000644772.1:c.3566T>C | ENSP00000494321.1:p.Leu1189Pro | |
| ENST00000645004.1:n.639T>C | ||
| ENST00000645076.1:c.2699T>C | ||
| ENST00000645417.1:c.666T>C | ||
| ENST00000645744.1:c.*1764T>C | ENSP00000494564.1:n.*1764T>C | |
| ENST00000645760.1:c.3775T>C | ||
| ENST00000645884.1:c.*637T>C | ENSP00000495516.1:n.*637T>C | |
| ENST00000646003.1:c.*1456T>C | ENSP00000495259.1:n.*1456T>C | |
| ENST00000646207.1:c.*1967T>C | ENSP00000495025.1:n.*1967T>C | |
| ENST00000646276.1:c.*1773T>C | ENSP00000496070.1:n.*1773T>C | |
| ENST00000646592.1:c.2806T>C | ||
| ENST00000646902.1:c.3497T>C | ENSP00000494101.1:p.Leu1166Pro | |
| ENST00000646993.1:c.*1896T>C | ENSP00000493720.1:n.*1896T>C | |
| ENST00000647013.1:c.3506T>C | ENSP00000496741.1:n.3506T>C | |
| ENST00000647015.1:c.3251T>C | ENSP00000495389.1:p.Leu1084Pro | |
| ENST00000647086.1:c.*3230T>C | ENSP00000493677.1:n.*3230T>C | |
| ENST00000647158.1:c.*1641T>C | ENSP00000495744.1:n.*1641T>C | |
| ENST00000302539.8:c.3503T>C | ENSP00000303960.4:p.Leu1168Pro | |
| ENST00000389817.7:c.3500T>C | ENSP00000374467.3:p.Leu1167Pro | |
| ENST00000524561.1:n.632T>C | ||
| ENST00000527905.5:c.*376T>C | ENSP00000431653.1:n.*376T>C | |
| NM_000352.4:c.3500T>C | NP_000343.2:p.Leu1167Pro | |
| NM_001287174.1:c.3503T>C | NP_001274103.1:p.Leu1168Pro | |
| XM_011520331.1:c.3500T>C | XP_011518633.1:p.Leu1167Pro | |
| XM_011520332.1:c.3503T>C | XP_011518634.1:p.Leu1168Pro | |
| XM_011520333.1:c.2000T>C | XP_011518635.1:p.Leu667Pro | |
| XR_930890.1:n.3566T>C | ||
| XR_930892.1:n.3466T>C | ||
| XR_930893.1:n.3463T>C | ||
| NM_001351295.1:c.3566T>C | NP_001338224.1:p.Leu1189Pro | |
| NM_001351296.1:c.3500T>C | NP_001338225.1:p.Leu1167Pro | |
| NM_001351297.1:c.3497T>C | NP_001338226.1:p.Leu1166Pro | |
| NR_147094.1:n.3649T>C | ||
| XM_017018197.2:c.3569T>C | XP_016873686.1:p.Leu1190Pro | |
| XM_017018199.1:c.3566T>C | XP_016873688.1:p.Leu1189Pro | |
| XM_017018201.2:c.3569T>C | XP_016873690.1:p.Leu1190Pro | |
| XM_017018202.1:c.2066T>C | XP_016873691.1:p.Leu689Pro | |
| XM_017018204.1:c.1457T>C | XP_016873693.1:p.Leu486Pro | |
| XM_024448668.1:c.1868T>C | XP_024304436.1:p.Leu623Pro | |
| XR_001747945.2:n.3641T>C | ||
| XR_001747946.2:n.3572T>C | ||
| XR_002957189.1:n.3721T>C | ||
| NM_000352.6:c.3500T>C MANE Select | NP_000343.2:p.Leu1167Pro | |
| NM_001287174.2:c.3503T>C | NP_001274103.1:p.Leu1168Pro | |
| NM_001351295.2:c.3566T>C | NP_001338224.1:p.Leu1189Pro | |
| NM_001351296.2:c.3500T>C | NP_001338225.1:p.Leu1167Pro | |
| NM_001351297.2:c.3497T>C | NP_001338226.1:p.Leu1166Pro | |
| NR_147094.2:n.3649T>C | ||
| NM_001287174.3:c.3503T>C | NP_001274103.1:p.Leu1168Pro |