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_000010.11:g.121498571C= , CM000672.2:g.121498571C= | GRCh38 |
| NC_000010.10:g.123258085C= , CM000672.1:g.123258085C= | GRCh37 |
| NC_000010.9:g.123248075C= | NCBI36 |
| NG_012449.1:g.104888G= | |
| NG_012449.2:g.104888G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457416.7:c.1599G= MANE Plus Clinical | ENSP00000410294.2:p.Val533= | |
| ENST00000351936.11:c.1590G= | ENSP00000309878.10:p.Val530= | |
| ENST00000638709.2:c.420G= | ENSP00000491912.2:p.Val140= | |
| ENST00000682296.1:n.938G= | ||
| ENST00000682550.1:c.1245G= | ENSP00000507633.1:p.Val415= | |
| ENST00000682772.1:c.420G= | ENSP00000506848.1:p.Val140= | |
| ENST00000682904.1:n.416G= | ||
| ENST00000683211.1:c.1590G= | ENSP00000508257.1:p.Val530= | |
| ENST00000683250.1:c.*298G= | ENSP00000506847.1:n.*298G= | |
| ENST00000683418.1:n.3937G= | ||
| ENST00000684153.1:c.1245G= | ENSP00000506937.1:p.Val415= | |
| ENST00000684516.1:n.2609G= | ||
| ENST00000358487.10:c.1596G= MANE Select | ENSP00000351276.6:p.Val532= | |
| ENST00000336553.10:c.1323G= | ENSP00000337665.6:p.Val441= | |
| ENST00000346997.6:c.1590G= | ENSP00000263451.5:p.Val530= | |
| ENST00000351936.10:c.1596G= | ENSP00000309878.9:p.Val532= | |
| ENST00000356226.8:c.1245G= | ENSP00000348559.4:p.Val415= | |
| ENST00000357555.9:c.1329G= | ENSP00000350166.5:p.Val443= | |
| ENST00000358487.9:c.1596G= | ENSP00000351276.5:p.Val532= | |
| ENST00000360144.7:c.1332G= | ENSP00000353262.3:p.Val444= | |
| ENST00000369056.5:c.1599G= | ENSP00000358052.1:p.Val533= | |
| ENST00000369058.7:c.1599G= | ENSP00000358054.3:p.Val533= | |
| ENST00000369059.5:c.1254G= | ENSP00000358055.1:p.Val418= | |
| ENST00000369060.8:c.1248G= | ENSP00000358056.4:p.Val416= | |
| ENST00000369061.8:c.1260G= | ENSP00000358057.4:p.Val420= | |
| ENST00000429361.5:c.372G= | ENSP00000404219.1:p.Val124= | |
| ENST00000457416.6:c.1599G= | ENSP00000410294.2:p.Val533= | |
| ENST00000478859.5:c.912G= | ENSP00000474011.1:p.Val304= | |
| ENST00000604236.5:c.*643G= | ENSP00000474109.1:n.*643G= | |
| ENST00000613048.4:c.1329G= | ENSP00000484154.1:p.Val443= | |
| NM_000141.4:c.1596G= | NP_000132.3:p.Val532= | |
| NM_001144913.1:c.1599G= | NP_001138385.1:p.Val533= | |
| NM_001144914.1:c.1260G= | NP_001138386.1:p.Val420= | |
| NM_001144915.1:c.1329G= | NP_001138387.1:p.Val443= | |
| NM_001144916.1:c.1251G= | NP_001138388.1:p.Val417= | |
| NM_001144917.1:c.1248G= | NP_001138389.1:p.Val416= | |
| NM_001144918.1:c.1245G= | NP_001138390.1:p.Val415= | |
| NM_001144919.1:c.1332G= | NP_001138391.1:p.Val444= | |
| NM_022970.3:c.1599G= | NP_075259.4:p.Val533= | |
| NM_023029.2:c.1329G= | NP_075418.1:p.Val443= | |
| NR_073009.1:n.2046G= | ||
| XM_006717708.2:c.1650G= | XP_006717771.1:p.Val550= | |
| XM_006717709.2:c.1647G= | XP_006717772.1:p.Val549= | |
| XM_006717710.2:c.1656G= | XP_006717773.1:p.Val552= | |
| XM_006717711.2:c.1389G= | XP_006717774.1:p.Val463= | |
| XM_006717712.2:c.1311G= | XP_006717775.1:p.Val437= | |
| XM_006717713.2:c.1653G= | XP_006717776.1:p.Val551= | |
| XM_011539510.1:c.912G= | XP_011537812.1:p.Val304= | |
| NM_001320654.1:c.912G= | NP_001307583.1:p.Val304= | |
| NM_001320658.1:c.1590G= | NP_001307587.1:p.Val530= | |
| XM_006717708.3:c.1650G= | XP_006717771.1:p.Val550= | |
| XM_006717710.4:c.1656G= | XP_006717773.1:p.Val552= | |
| XM_017015920.2:c.1650G= | XP_016871409.1:p.Val550= | |
| XM_017015921.2:c.1647G= | XP_016871410.1:p.Val549= | |
| XM_017015924.2:c.1308G= | XP_016871413.1:p.Val436= | |
| XM_017015925.2:c.1302G= | XP_016871414.1:p.Val434= | |
| XM_024447887.1:c.1386G= | XP_024303655.1:p.Val462= | |
| XM_024447888.1:c.1383G= | XP_024303656.1:p.Val461= | |
| XM_024447889.1:c.1380G= | XP_024303657.1:p.Val460= | |
| XM_024447890.1:c.1389G= | XP_024303658.1:p.Val463= | |
| XM_024447891.1:c.1311G= | XP_024303659.1:p.Val437= | |
| XM_024447892.1:c.426G= | XP_024303660.1:p.Val142= | |
| NM_000141.5:c.1596G= MANE Select | NP_000132.3:p.Val532= | |
| NM_001144917.2:c.1248G= | NP_001138389.1:p.Val416= | |
| NM_001144918.2:c.1245G= | NP_001138390.1:p.Val415= | |
| NM_001144919.2:c.1332G= | NP_001138391.1:p.Val444= | |
| NM_001320658.2:c.1590G= | NP_001307587.1:p.Val530= | |
| NR_073009.2:n.2032G= | ||
| NM_001144915.2:c.1329G= | NP_001138387.1:p.Val443= | |
| NM_001144916.2:c.1251G= | NP_001138388.1:p.Val417= | |
| NM_001320654.2:c.912G= | NP_001307583.1:p.Val304= |