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.17426118G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404571G>C , CM000673.2:g.17404571G>C | GRCh38 |
| NC_000011.9:g.17426118G>C , CM000673.1:g.17426118G>C | GRCh37 |
| NC_000011.8:g.17382694G>C | NCBI36 |
| NG_008867.1:g.77332C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3067C>G | ||
| ENST00000528374.2:c.77C>G | ||
| ENST00000529967.6:n.1837C>G | ||
| ENST00000532220.2:n.1230C>G | ||
| ENST00000642611.2:n.3567C>G | ||
| ENST00000645004.2:n.997C>G | ||
| ENST00000682051.1:n.3514C>G | ||
| ENST00000682110.1:n.3567C>G | ||
| ENST00000682140.1:c.3495C>G | ENSP00000507829.1:p.Ala1165= | |
| ENST00000682185.1:n.4803C>G | ||
| ENST00000682204.1:c.*1636C>G | ENSP00000507094.1:n.*1636C>G | |
| ENST00000682215.1:n.3564C>G | ||
| ENST00000682288.1:c.*1929C>G | ENSP00000507506.1:n.*1929C>G | |
| ENST00000682442.1:n.3787C>G | ||
| ENST00000682528.1:n.3644C>G | ||
| ENST00000682673.1:n.3511C>G | ||
| ENST00000682805.1:n.3564C>G | ||
| ENST00000682965.1:c.3396+923C>G | ENSP00000508229.1:n.3396+923C>G | |
| ENST00000683093.1:n.3666C>G | ||
| ENST00000683136.1:c.3495C>G | ENSP00000507768.1:p.Ala1165= | |
| ENST00000683153.1:n.3723C>G | ||
| ENST00000683365.1:n.3669C>G | ||
| ENST00000683377.1:n.3567C>G | ||
| ENST00000683456.1:c.*635C>G | ENSP00000508318.1:n.*635C>G | |
| ENST00000683522.1:n.3567C>G | ||
| ENST00000683562.1:c.*1667C>G | ENSP00000508265.1:n.*1667C>G | |
| ENST00000683693.1:n.3644C>G | ||
| ENST00000683725.1:c.3498C>G | ENSP00000507496.1:p.Ala1166= | |
| ENST00000684010.1:n.3562C>G | ||
| ENST00000684157.1:n.3567C>G | ||
| ENST00000684253.1:n.3470C>G | ||
| ENST00000684288.1:c.*1670C>G | ENSP00000507143.1:n.*1670C>G | |
| ENST00000684313.1:n.2999C>G | ||
| ENST00000684332.1:n.3640C>G | ||
| ENST00000684371.1:n.3673C>G | ||
| ENST00000684404.1:n.3610C>G | ||
| ENST00000684442.1:n.3567C>G | ||
| ENST00000684555.1:c.*1710C>G | ENSP00000507705.1:n.*1710C>G | |
| ENST00000684571.1:c.3339C>G | ENSP00000506935.1:p.Ala1113= | |
| ENST00000684593.1:c.*3203C>G | ENSP00000507005.1:n.*3203C>G | |
| ENST00000684711.1:c.*1894C>G | ENSP00000506841.1:n.*1894C>G | |
| ENST00000302539.9:c.3501C>G | ENSP00000303960.4:p.Ala1167= | |
| ENST00000389817.8:c.3498C>G MANE Select | ENSP00000374467.4:p.Ala1166= | |
| ENST00000642271.1:c.3495C>G | ENSP00000493749.1:p.Ala1165= | |
| ENST00000642579.1:c.1582C>G | ||
| ENST00000642611.1:n.3452C>G | ||
| ENST00000642902.1:c.3280C>G | ||
| ENST00000643260.1:c.3498C>G | ENSP00000494450.1:p.Ala1166= | |
| ENST00000643562.1:c.*1474C>G | ENSP00000496124.1:n.*1474C>G | |
| ENST00000643925.1:c.1622C>G | ||
| ENST00000644447.1:c.1854C>G | ENSP00000496282.1:p.Ala618= | |
| ENST00000644484.1:c.*1753C>G | ENSP00000493558.1:n.*1753C>G | |
| ENST00000644675.1:c.*1670C>G | ENSP00000494567.1:n.*1670C>G | |
| ENST00000644757.1:c.*1783C>G | ENSP00000495085.1:n.*1783C>G | |
| ENST00000644772.1:c.3564C>G | ENSP00000494321.1:p.Ala1188= | |
| ENST00000645004.1:n.637C>G | ||
| ENST00000645076.1:c.2697C>G | ||
| ENST00000645417.1:c.664C>G | ||
| ENST00000645744.1:c.*1762C>G | ENSP00000494564.1:n.*1762C>G | |
| ENST00000645760.1:c.3773C>G | ||
| ENST00000645884.1:c.*635C>G | ENSP00000495516.1:n.*635C>G | |
| ENST00000646003.1:c.*1454C>G | ENSP00000495259.1:n.*1454C>G | |
| ENST00000646207.1:c.*1965C>G | ENSP00000495025.1:n.*1965C>G | |
| ENST00000646276.1:c.*1771C>G | ENSP00000496070.1:n.*1771C>G | |
| ENST00000646592.1:c.2804C>G | ||
| ENST00000646902.1:c.3495C>G | ENSP00000494101.1:p.Ala1165= | |
| ENST00000646993.1:c.*1894C>G | ENSP00000493720.1:n.*1894C>G | |
| ENST00000647013.1:c.3504C>G | ENSP00000496741.1:n.3504C>G | |
| ENST00000647015.1:c.3249C>G | ENSP00000495389.1:p.Ala1083= | |
| ENST00000647086.1:c.*3228C>G | ENSP00000493677.1:n.*3228C>G | |
| ENST00000647158.1:c.*1639C>G | ENSP00000495744.1:n.*1639C>G | |
| ENST00000302539.8:c.3501C>G | ENSP00000303960.4:p.Ala1167= | |
| ENST00000389817.7:c.3498C>G | ENSP00000374467.3:p.Ala1166= | |
| ENST00000524561.1:n.630C>G | ||
| ENST00000527905.5:c.*374C>G | ENSP00000431653.1:n.*374C>G | |
| NM_000352.4:c.3498C>G | NP_000343.2:p.Ala1166= | |
| NM_001287174.1:c.3501C>G | NP_001274103.1:p.Ala1167= | |
| XM_011520331.1:c.3498C>G | XP_011518633.1:p.Ala1166= | |
| XM_011520332.1:c.3501C>G | XP_011518634.1:p.Ala1167= | |
| XM_011520333.1:c.1998C>G | XP_011518635.1:p.Ala666= | |
| XR_930890.1:n.3564C>G | ||
| XR_930892.1:n.3464C>G | ||
| XR_930893.1:n.3461C>G | ||
| NM_001351295.1:c.3564C>G | NP_001338224.1:p.Ala1188= | |
| NM_001351296.1:c.3498C>G | NP_001338225.1:p.Ala1166= | |
| NM_001351297.1:c.3495C>G | NP_001338226.1:p.Ala1165= | |
| NR_147094.1:n.3647C>G | ||
| XM_017018197.2:c.3567C>G | XP_016873686.1:p.Ala1189= | |
| XM_017018199.1:c.3564C>G | XP_016873688.1:p.Ala1188= | |
| XM_017018201.2:c.3567C>G | XP_016873690.1:p.Ala1189= | |
| XM_017018202.1:c.2064C>G | XP_016873691.1:p.Ala688= | |
| XM_017018204.1:c.1455C>G | XP_016873693.1:p.Ala485= | |
| XM_024448668.1:c.1866C>G | XP_024304436.1:p.Ala622= | |
| XR_001747945.2:n.3639C>G | ||
| XR_001747946.2:n.3570C>G | ||
| XR_002957189.1:n.3719C>G | ||
| NM_000352.6:c.3498C>G MANE Select | NP_000343.2:p.Ala1166= | |
| NM_001287174.2:c.3501C>G | NP_001274103.1:p.Ala1167= | |
| NM_001351295.2:c.3564C>G | NP_001338224.1:p.Ala1188= | |
| NM_001351296.2:c.3498C>G | NP_001338225.1:p.Ala1166= | |
| NM_001351297.2:c.3495C>G | NP_001338226.1:p.Ala1165= | |
| NR_147094.2:n.3647C>G | ||
| NM_001287174.3:c.3501C>G | NP_001274103.1:p.Ala1167= |