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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395903C= , CM000673.2:g.17395903C= | GRCh38 |
| NC_000011.9:g.17417450C= , CM000673.1:g.17417450C= | GRCh37 |
| NC_000011.8:g.17374026C= | NCBI36 |
| NG_008867.1:g.86000G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3748G= | ||
| ENST00000528374.2:c.738G= | ||
| ENST00000529967.6:n.2486G= | ||
| ENST00000532220.2:n.3380G= | ||
| ENST00000642611.2:n.5347G= | ||
| ENST00000644057.2:n.590G= | ||
| ENST00000645004.2:n.1646G= | ||
| ENST00000682051.1:n.4309G= | ||
| ENST00000682110.1:n.4362G= | ||
| ENST00000682140.1:c.4013G= | ENSP00000507829.1:p.Trp1338= | |
| ENST00000682185.1:n.5452G= | ||
| ENST00000682204.1:c.*2285G= | ENSP00000507094.1:n.*2285G= | |
| ENST00000682215.1:n.4729G= | ||
| ENST00000682288.1:c.*2578G= | ENSP00000507506.1:n.*2578G= | |
| ENST00000682442.1:n.4582G= | ||
| ENST00000682528.1:n.4439G= | ||
| ENST00000682673.1:n.4306G= | ||
| ENST00000682805.1:n.4767G= | ||
| ENST00000682965.1:c.*569G= | ENSP00000508229.1:n.*569G= | |
| ENST00000683093.1:n.5446G= | ||
| ENST00000683136.1:c.4030G= | ENSP00000507768.1:p.Gly1344= | |
| ENST00000683153.1:n.4404G= | ||
| ENST00000683365.1:n.4464G= | ||
| ENST00000683377.1:n.4362G= | ||
| ENST00000683456.1:c.*1284G= | ENSP00000508318.1:n.*1284G= | |
| ENST00000683522.1:n.4362G= | ||
| ENST00000683562.1:c.*2316G= | ENSP00000508265.1:n.*2316G= | |
| ENST00000683693.1:n.5794G= | ||
| ENST00000683725.1:c.4147G= | ENSP00000507496.1:p.Gly1383= | |
| ENST00000684010.1:n.4357G= | ||
| ENST00000684157.1:n.5347G= | ||
| ENST00000684253.1:n.4265G= | ||
| ENST00000684288.1:c.*2319G= | ENSP00000507143.1:n.*2319G= | |
| ENST00000684313.1:n.3794G= | ||
| ENST00000684332.1:n.4435G= | ||
| ENST00000684371.1:n.4468G= | ||
| ENST00000684404.1:n.5390G= | ||
| ENST00000684442.1:n.4586G= | ||
| ENST00000684555.1:c.*2359G= | ENSP00000507705.1:n.*2359G= | |
| ENST00000684571.1:c.3988G= | ENSP00000506935.1:p.Gly1330= | |
| ENST00000684593.1:c.*3852G= | ENSP00000507005.1:n.*3852G= | |
| ENST00000684711.1:c.*2543G= | ENSP00000506841.1:n.*2543G= | |
| ENST00000302539.9:c.4150G= | ENSP00000303960.4:p.Gly1384= | |
| ENST00000389817.8:c.4147G= MANE Select | ENSP00000374467.4:p.Gly1383= | |
| ENST00000642271.1:c.4144G= | ENSP00000493749.1:p.Gly1382= | |
| ENST00000642579.1:c.2201G= | ||
| ENST00000642611.1:n.5232G= | ||
| ENST00000642902.1:c.3929G= | ||
| ENST00000643260.1:c.4147G= | ENSP00000494450.1:p.Gly1383= | |
| ENST00000643562.1:c.*2269G= | ENSP00000496124.1:n.*2269G= | |
| ENST00000643925.1:c.2787G= | ||
| ENST00000644057.1:n.224G= | ||
| ENST00000644484.1:c.*3533G= | ENSP00000493558.1:n.*3533G= | |
| ENST00000644675.1:c.*2319G= | ENSP00000494567.1:n.*2319G= | |
| ENST00000644757.1:c.*3202+361G= | ENSP00000495085.1:n.*3202+361G= | |
| ENST00000644772.1:c.4213G= | ENSP00000494321.1:p.Gly1405= | |
| ENST00000645004.1:n.1840G= | ||
| ENST00000645076.1:c.3346G= | ||
| ENST00000645417.1:c.1335G= | ||
| ENST00000645744.1:c.*3912G= | ENSP00000494564.1:n.*3912G= | |
| ENST00000645760.1:c.4568G= | ||
| ENST00000645884.1:c.*1430G= | ENSP00000495516.1:n.*1430G= | |
| ENST00000646003.1:c.*2249G= | ENSP00000495259.1:n.*2249G= | |
| ENST00000646207.1:c.*2984G= | ENSP00000495025.1:n.*2984G= | |
| ENST00000646276.1:c.*3551G= | ENSP00000496070.1:n.*3551G= | |
| ENST00000646592.1:c.3453G= | ||
| ENST00000646902.1:c.4114G= | ENSP00000494101.1:p.Gly1372= | |
| ENST00000646993.1:c.*2689G= | ENSP00000493720.1:n.*2689G= | |
| ENST00000647013.1:c.4153G= | ENSP00000496741.1:n.4153G= | |
| ENST00000647015.1:c.3898G= | ENSP00000495389.1:p.Gly1300= | |
| ENST00000647086.1:c.*3733G= | ENSP00000493677.1:n.*3733G= | |
| ENST00000647158.1:c.*2434G= | ENSP00000495744.1:n.*2434G= | |
| ENST00000302539.8:c.4150G= | ENSP00000303960.4:p.Gly1384= | |
| ENST00000389817.7:c.4147G= | ENSP00000374467.3:p.Gly1383= | |
| ENST00000525022.1:n.13G= | ||
| ENST00000526168.5:c.15G= | ||
| NM_000352.4:c.4147G= | NP_000343.2:p.Gly1383= | |
| NM_001287174.1:c.4150G= | NP_001274103.1:p.Gly1384= | |
| XM_011520331.1:c.4147G= | XP_011518633.1:p.Gly1383= | |
| XM_011520332.1:c.4150G= | XP_011518634.1:p.Gly1384= | |
| XM_011520333.1:c.2647G= | XP_011518635.1:p.Gly883= | |
| XR_930890.1:n.4213G= | ||
| NM_001351295.1:c.4213G= | NP_001338224.1:p.Gly1405= | |
| NM_001351296.1:c.4147G= | NP_001338225.1:p.Gly1383= | |
| NM_001351297.1:c.4144G= | NP_001338226.1:p.Gly1382= | |
| NR_147094.1:n.4442G= | ||
| XM_017018197.2:c.4216G= | XP_016873686.1:p.Gly1406= | |
| XM_017018199.1:c.4213G= | XP_016873688.1:p.Gly1405= | |
| XM_017018201.2:c.4216G= | XP_016873690.1:p.Gly1406= | |
| XM_017018202.1:c.2713G= | XP_016873691.1:p.Gly905= | |
| XM_017018204.1:c.2104G= | XP_016873693.1:p.Gly702= | |
| XM_024448668.1:c.2515G= | XP_024304436.1:p.Gly839= | |
| XR_001747945.2:n.4288G= | ||
| XR_001747946.2:n.4219G= | ||
| XR_002957189.1:n.5869G= | ||
| NM_000352.6:c.4147G= MANE Select | NP_000343.2:p.Gly1383= | |
| NM_001287174.2:c.4150G= | NP_001274103.1:p.Gly1384= | |
| NM_001351295.2:c.4213G= | NP_001338224.1:p.Gly1405= | |
| NM_001351296.2:c.4147G= | NP_001338225.1:p.Gly1383= | |
| NM_001351297.2:c.4144G= | NP_001338226.1:p.Gly1382= | |
| NR_147094.2:n.4442G= | ||
| NM_001287174.3:c.4150G= | NP_001274103.1:p.Gly1384= |