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.17418481G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396934G>C , CM000673.2:g.17396934G>C | GRCh38 |
| NC_000011.9:g.17418481G>C , CM000673.1:g.17418481G>C | GRCh37 |
| NC_000011.8:g.17375057G>C | NCBI36 |
| NG_008867.1:g.84969C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3702C>G | ||
| ENST00000528374.2:c.692C>G | ||
| ENST00000529967.6:n.2440C>G | ||
| ENST00000532220.2:n.2349C>G | ||
| ENST00000642611.2:n.4316C>G | ||
| ENST00000644057.2:n.544C>G | ||
| ENST00000645004.2:n.1600C>G | ||
| ENST00000682051.1:n.4263C>G | ||
| ENST00000682110.1:n.4316C>G | ||
| ENST00000682140.1:c.3985+259C>G | ENSP00000507829.1:n.3985+259C>G | |
| ENST00000682185.1:n.5406C>G | ||
| ENST00000682204.1:c.*2239C>G | ENSP00000507094.1:n.*2239C>G | |
| ENST00000682215.1:n.4683C>G | ||
| ENST00000682288.1:c.*2532C>G | ENSP00000507506.1:n.*2532C>G | |
| ENST00000682442.1:n.4536C>G | ||
| ENST00000682528.1:n.4393C>G | ||
| ENST00000682673.1:n.4260C>G | ||
| ENST00000682805.1:n.4683C>G | ||
| ENST00000682965.1:c.*523C>G | ENSP00000508229.1:n.*523C>G | |
| ENST00000683093.1:n.4415C>G | ||
| ENST00000683136.1:c.3984C>G | ENSP00000507768.1:p.Leu1328= | |
| ENST00000683153.1:n.4358C>G | ||
| ENST00000683365.1:n.4418C>G | ||
| ENST00000683377.1:n.4316C>G | ||
| ENST00000683456.1:c.*1238C>G | ENSP00000508318.1:n.*1238C>G | |
| ENST00000683522.1:n.4316C>G | ||
| ENST00000683562.1:c.*2270C>G | ENSP00000508265.1:n.*2270C>G | |
| ENST00000683693.1:n.4763C>G | ||
| ENST00000683725.1:c.4101C>G | ENSP00000507496.1:p.Leu1367= | |
| ENST00000684010.1:n.4311C>G | ||
| ENST00000684157.1:n.4316C>G | ||
| ENST00000684253.1:n.4219C>G | ||
| ENST00000684288.1:c.*2273C>G | ENSP00000507143.1:n.*2273C>G | |
| ENST00000684313.1:n.3748C>G | ||
| ENST00000684332.1:n.4389C>G | ||
| ENST00000684371.1:n.4422C>G | ||
| ENST00000684404.1:n.4359C>G | ||
| ENST00000684442.1:n.4540C>G | ||
| ENST00000684555.1:c.*2313C>G | ENSP00000507705.1:n.*2313C>G | |
| ENST00000684571.1:c.3942C>G | ENSP00000506935.1:p.Leu1314= | |
| ENST00000684593.1:c.*3806C>G | ENSP00000507005.1:n.*3806C>G | |
| ENST00000684711.1:c.*2497C>G | ENSP00000506841.1:n.*2497C>G | |
| ENST00000302539.9:c.4104C>G | ENSP00000303960.4:p.Leu1368= | |
| ENST00000389817.8:c.4101C>G MANE Select | ENSP00000374467.4:p.Leu1367= | |
| ENST00000642271.1:c.4098C>G | ENSP00000493749.1:p.Leu1366= | |
| ENST00000642579.1:c.2155C>G | ||
| ENST00000642611.1:n.4201C>G | ||
| ENST00000642902.1:c.3883C>G | ||
| ENST00000643260.1:c.4101C>G | ENSP00000494450.1:p.Leu1367= | |
| ENST00000643562.1:c.*2223C>G | ENSP00000496124.1:n.*2223C>G | |
| ENST00000643925.1:c.2741C>G | ||
| ENST00000644057.1:n.178C>G | ||
| ENST00000644484.1:c.*2502C>G | ENSP00000493558.1:n.*2502C>G | |
| ENST00000644675.1:c.*2273C>G | ENSP00000494567.1:n.*2273C>G | |
| ENST00000644757.1:c.*2532C>G | ENSP00000495085.1:n.*2532C>G | |
| ENST00000644772.1:c.4167C>G | ENSP00000494321.1:p.Leu1389= | |
| ENST00000645004.1:n.1756C>G | ||
| ENST00000645076.1:c.3300C>G | ||
| ENST00000645417.1:c.1289C>G | ||
| ENST00000645744.1:c.*2881C>G | ENSP00000494564.1:n.*2881C>G | |
| ENST00000645760.1:c.4522C>G | ||
| ENST00000645884.1:c.*1384C>G | ENSP00000495516.1:n.*1384C>G | |
| ENST00000646003.1:c.*2203C>G | ENSP00000495259.1:n.*2203C>G | |
| ENST00000646207.1:c.*2938C>G | ENSP00000495025.1:n.*2938C>G | |
| ENST00000646276.1:c.*2520C>G | ENSP00000496070.1:n.*2520C>G | |
| ENST00000646592.1:c.3407C>G | ||
| ENST00000646902.1:c.4068C>G | ENSP00000494101.1:p.Leu1356= | |
| ENST00000646993.1:c.*2643C>G | ENSP00000493720.1:n.*2643C>G | |
| ENST00000647013.1:c.4107C>G | ENSP00000496741.1:n.4107C>G | |
| ENST00000647015.1:c.3852C>G | ENSP00000495389.1:p.Leu1284= | |
| ENST00000647086.1:c.*3687C>G | ENSP00000493677.1:n.*3687C>G | |
| ENST00000647158.1:c.*2388C>G | ENSP00000495744.1:n.*2388C>G | |
| ENST00000302539.8:c.4104C>G | ENSP00000303960.4:p.Leu1368= | |
| ENST00000389817.7:c.4101C>G | ENSP00000374467.3:p.Leu1367= | |
| ENST00000527905.5:c.*1123C>G | ENSP00000431653.1:n.*1123C>G | |
| ENST00000528374.1:c.583C>G | ||
| ENST00000531891.1:c.439C>G | ||
| ENST00000532220.1:n.575C>G | ||
| NM_000352.4:c.4101C>G | NP_000343.2:p.Leu1367= | |
| NM_001287174.1:c.4104C>G | NP_001274103.1:p.Leu1368= | |
| XM_011520331.1:c.4101C>G | XP_011518633.1:p.Leu1367= | |
| XM_011520332.1:c.4104C>G | XP_011518634.1:p.Leu1368= | |
| XM_011520333.1:c.2601C>G | XP_011518635.1:p.Leu867= | |
| XR_930890.1:n.4167C>G | ||
| NM_001351295.1:c.4167C>G | NP_001338224.1:p.Leu1389= | |
| NM_001351296.1:c.4101C>G | NP_001338225.1:p.Leu1367= | |
| NM_001351297.1:c.4098C>G | NP_001338226.1:p.Leu1366= | |
| NR_147094.1:n.4396C>G | ||
| XM_017018197.2:c.4170C>G | XP_016873686.1:p.Leu1390= | |
| XM_017018199.1:c.4167C>G | XP_016873688.1:p.Leu1389= | |
| XM_017018201.2:c.4170C>G | XP_016873690.1:p.Leu1390= | |
| XM_017018202.1:c.2667C>G | XP_016873691.1:p.Leu889= | |
| XM_017018204.1:c.2058C>G | XP_016873693.1:p.Leu686= | |
| XM_024448668.1:c.2469C>G | XP_024304436.1:p.Leu823= | |
| XR_001747945.2:n.4242C>G | ||
| XR_001747946.2:n.4173C>G | ||
| XR_002957189.1:n.4838C>G | ||
| NM_000352.6:c.4101C>G MANE Select | NP_000343.2:p.Leu1367= | |
| NM_001287174.2:c.4104C>G | NP_001274103.1:p.Leu1368= | |
| NM_001351295.2:c.4167C>G | NP_001338224.1:p.Leu1389= | |
| NM_001351296.2:c.4101C>G | NP_001338225.1:p.Leu1367= | |
| NM_001351297.2:c.4098C>G | NP_001338226.1:p.Leu1366= | |
| NR_147094.2:n.4396C>G | ||
| NM_001287174.3:c.4104C>G | NP_001274103.1:p.Leu1368= |