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
MyVariant Identifiers:
chr11:g.17418475G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396928G>T , CM000673.2:g.17396928G>T | GRCh38 |
| NC_000011.9:g.17418475G>T , CM000673.1:g.17418475G>T | GRCh37 |
| NC_000011.8:g.17375051G>T | NCBI36 |
| NG_008867.1:g.84975C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3708C>A | ||
| ENST00000528374.2:c.698C>A | ||
| ENST00000529967.6:n.2446C>A | ||
| ENST00000532220.2:n.2355C>A | ||
| ENST00000642611.2:n.4322C>A | ||
| ENST00000644057.2:n.550C>A | ||
| ENST00000645004.2:n.1606C>A | ||
| ENST00000682051.1:n.4269C>A | ||
| ENST00000682110.1:n.4322C>A | ||
| ENST00000682140.1:c.3985+265C>A | ENSP00000507829.1:n.3985+265C>A | |
| ENST00000682185.1:n.5412C>A | ||
| ENST00000682204.1:c.*2245C>A | ENSP00000507094.1:n.*2245C>A | |
| ENST00000682215.1:n.4689C>A | ||
| ENST00000682288.1:c.*2538C>A | ENSP00000507506.1:n.*2538C>A | |
| ENST00000682442.1:n.4542C>A | ||
| ENST00000682528.1:n.4399C>A | ||
| ENST00000682673.1:n.4266C>A | ||
| ENST00000682805.1:n.4689C>A | ||
| ENST00000682965.1:c.*529C>A | ENSP00000508229.1:n.*529C>A | |
| ENST00000683093.1:n.4421C>A | ||
| ENST00000683136.1:c.3990C>A | ENSP00000507768.1:p.Ala1330= | |
| ENST00000683153.1:n.4364C>A | ||
| ENST00000683365.1:n.4424C>A | ||
| ENST00000683377.1:n.4322C>A | ||
| ENST00000683456.1:c.*1244C>A | ENSP00000508318.1:n.*1244C>A | |
| ENST00000683522.1:n.4322C>A | ||
| ENST00000683562.1:c.*2276C>A | ENSP00000508265.1:n.*2276C>A | |
| ENST00000683693.1:n.4769C>A | ||
| ENST00000683725.1:c.4107C>A | ENSP00000507496.1:p.Ala1369= | |
| ENST00000684010.1:n.4317C>A | ||
| ENST00000684157.1:n.4322C>A | ||
| ENST00000684253.1:n.4225C>A | ||
| ENST00000684288.1:c.*2279C>A | ENSP00000507143.1:n.*2279C>A | |
| ENST00000684313.1:n.3754C>A | ||
| ENST00000684332.1:n.4395C>A | ||
| ENST00000684371.1:n.4428C>A | ||
| ENST00000684404.1:n.4365C>A | ||
| ENST00000684442.1:n.4546C>A | ||
| ENST00000684555.1:c.*2319C>A | ENSP00000507705.1:n.*2319C>A | |
| ENST00000684571.1:c.3948C>A | ENSP00000506935.1:p.Ala1316= | |
| ENST00000684593.1:c.*3812C>A | ENSP00000507005.1:n.*3812C>A | |
| ENST00000684711.1:c.*2503C>A | ENSP00000506841.1:n.*2503C>A | |
| ENST00000302539.9:c.4110C>A | ENSP00000303960.4:p.Ala1370= | |
| ENST00000389817.8:c.4107C>A MANE Select | ENSP00000374467.4:p.Ala1369= | |
| ENST00000642271.1:c.4104C>A | ENSP00000493749.1:p.Ala1368= | |
| ENST00000642579.1:c.2161C>A | ||
| ENST00000642611.1:n.4207C>A | ||
| ENST00000642902.1:c.3889C>A | ||
| ENST00000643260.1:c.4107C>A | ENSP00000494450.1:p.Ala1369= | |
| ENST00000643562.1:c.*2229C>A | ENSP00000496124.1:n.*2229C>A | |
| ENST00000643925.1:c.2747C>A | ||
| ENST00000644057.1:n.184C>A | ||
| ENST00000644484.1:c.*2508C>A | ENSP00000493558.1:n.*2508C>A | |
| ENST00000644675.1:c.*2279C>A | ENSP00000494567.1:n.*2279C>A | |
| ENST00000644757.1:c.*2538C>A | ENSP00000495085.1:n.*2538C>A | |
| ENST00000644772.1:c.4173C>A | ENSP00000494321.1:p.Ala1391= | |
| ENST00000645004.1:n.1762C>A | ||
| ENST00000645076.1:c.3306C>A | ||
| ENST00000645417.1:c.1295C>A | ||
| ENST00000645744.1:c.*2887C>A | ENSP00000494564.1:n.*2887C>A | |
| ENST00000645760.1:c.4528C>A | ||
| ENST00000645884.1:c.*1390C>A | ENSP00000495516.1:n.*1390C>A | |
| ENST00000646003.1:c.*2209C>A | ENSP00000495259.1:n.*2209C>A | |
| ENST00000646207.1:c.*2944C>A | ENSP00000495025.1:n.*2944C>A | |
| ENST00000646276.1:c.*2526C>A | ENSP00000496070.1:n.*2526C>A | |
| ENST00000646592.1:c.3413C>A | ||
| ENST00000646902.1:c.4074C>A | ENSP00000494101.1:p.Ala1358= | |
| ENST00000646993.1:c.*2649C>A | ENSP00000493720.1:n.*2649C>A | |
| ENST00000647013.1:c.4113C>A | ENSP00000496741.1:n.4113C>A | |
| ENST00000647015.1:c.3858C>A | ENSP00000495389.1:p.Ala1286= | |
| ENST00000647086.1:c.*3693C>A | ENSP00000493677.1:n.*3693C>A | |
| ENST00000647158.1:c.*2394C>A | ENSP00000495744.1:n.*2394C>A | |
| ENST00000302539.8:c.4110C>A | ENSP00000303960.4:p.Ala1370= | |
| ENST00000389817.7:c.4107C>A | ENSP00000374467.3:p.Ala1369= | |
| ENST00000527905.5:c.*1129C>A | ENSP00000431653.1:n.*1129C>A | |
| ENST00000528374.1:c.589C>A | ||
| ENST00000532220.1:n.581C>A | ||
| NM_000352.4:c.4107C>A | NP_000343.2:p.Ala1369= | |
| NM_001287174.1:c.4110C>A | NP_001274103.1:p.Ala1370= | |
| XM_011520331.1:c.4107C>A | XP_011518633.1:p.Ala1369= | |
| XM_011520332.1:c.4110C>A | XP_011518634.1:p.Ala1370= | |
| XM_011520333.1:c.2607C>A | XP_011518635.1:p.Ala869= | |
| XR_930890.1:n.4173C>A | ||
| NM_001351295.1:c.4173C>A | NP_001338224.1:p.Ala1391= | |
| NM_001351296.1:c.4107C>A | NP_001338225.1:p.Ala1369= | |
| NM_001351297.1:c.4104C>A | NP_001338226.1:p.Ala1368= | |
| NR_147094.1:n.4402C>A | ||
| XM_017018197.2:c.4176C>A | XP_016873686.1:p.Ala1392= | |
| XM_017018199.1:c.4173C>A | XP_016873688.1:p.Ala1391= | |
| XM_017018201.2:c.4176C>A | XP_016873690.1:p.Ala1392= | |
| XM_017018202.1:c.2673C>A | XP_016873691.1:p.Ala891= | |
| XM_017018204.1:c.2064C>A | XP_016873693.1:p.Ala688= | |
| XM_024448668.1:c.2475C>A | XP_024304436.1:p.Ala825= | |
| XR_001747945.2:n.4248C>A | ||
| XR_001747946.2:n.4179C>A | ||
| XR_002957189.1:n.4844C>A | ||
| NM_000352.6:c.4107C>A MANE Select | NP_000343.2:p.Ala1369= | |
| NM_001287174.2:c.4110C>A | NP_001274103.1:p.Ala1370= | |
| NM_001351295.2:c.4173C>A | NP_001338224.1:p.Ala1391= | |
| NM_001351296.2:c.4107C>A | NP_001338225.1:p.Ala1369= | |
| NM_001351297.2:c.4104C>A | NP_001338226.1:p.Ala1368= | |
| NR_147094.2:n.4402C>A | ||
| NM_001287174.3:c.4110C>A | NP_001274103.1:p.Ala1370= |