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_000007.14:g.92099821G= , CM000669.2:g.92099821G= | GRCh38 |
| NC_000007.13:g.91729135G= , CM000669.1:g.91729135G= | GRCh37 |
| NC_000007.12:g.91567071G= | NCBI36 |
| NG_011623.1:g.163947G= , LRG_331:g.163947G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691309.1:c.1352-14219C= (CYP51A1) | ENSP00000510368.1:n.1352-14219C= | |
| ENST00000356239.8:c.10848G= (AKAP9) MANE Select | ENSP00000348573.3:p.Leu3616= | |
| ENST00000359028.7:c.10920G= (AKAP9) | ENSP00000351922.4:p.Leu3640= | |
| ENST00000394534.7:c.3840G= (AKAP9) | ENSP00000378042.3:p.Leu1280= | |
| ENST00000463118.2:n.196G= (AKAP9) | ||
| ENST00000486313.2:c.336G= (AKAP9) | ENSP00000505389.1:p.Leu112= | |
| ENST00000487692.2:n.2926G= (AKAP9) | ||
| ENST00000491695.2:c.5493G= (AKAP9) | ENSP00000494626.2:p.Leu1831= | |
| ENST00000679448.1:c.*1728G= (AKAP9) | ENSP00000505889.1:n.*1728G= | |
| ENST00000679457.1:c.10824G= (AKAP9) | ENSP00000505450.1:p.Leu3608= | |
| ENST00000679474.1:n.11046G= (AKAP9) | ||
| ENST00000679521.1:c.10794G= (AKAP9) | ENSP00000505456.1:p.Leu3598= | |
| ENST00000679821.1:c.10590G= (AKAP9) | ENSP00000506040.1:p.Leu3530= | |
| ENST00000680047.1:n.12518G= (AKAP9) | ||
| ENST00000680072.1:c.10671G= (AKAP9) | ENSP00000506581.1:p.Leu3557= | |
| ENST00000680181.1:c.10755G= (AKAP9) | ENSP00000505548.1:p.Leu3585= | |
| ENST00000680365.1:c.4487G= (AKAP9) | ENSP00000506019.1:n.4487G= | |
| ENST00000680513.1:c.10707G= (AKAP9) | ENSP00000505284.1:p.Leu3569= | |
| ENST00000680534.1:c.10887G= (AKAP9) | ENSP00000506674.1:p.Leu3629= | |
| ENST00000680766.1:c.10824G= (AKAP9) | ENSP00000505204.1:p.Leu3608= | |
| ENST00000680952.1:c.10824G= (AKAP9) | ENSP00000506407.1:p.Leu3608= | |
| ENST00000681216.1:c.4608G= (AKAP9) | ENSP00000505551.1:n.4608G= | |
| ENST00000681412.1:c.10848G= (AKAP9) | ENSP00000506486.1:p.Leu3616= | |
| ENST00000681722.1:c.10824G= (AKAP9) | ENSP00000506566.1:p.Leu3608= | |
| ENST00000356239.7:c.10848G= (AKAP9) | ENSP00000348573.3:p.Leu3616= | |
| ENST00000359028.6:c.10857G= (AKAP9) | ENSP00000351922.3:p.Leu3619= | |
| ENST00000394534.6:c.4386G= (AKAP9) | ENSP00000378042.2:p.Leu1462= | |
| ENST00000463118.1:n.196G= (AKAP9) | ||
| ENST00000487258.5:n.2598G= (AKAP9) | ||
| ENST00000487692.1:n.648G= (AKAP9) | ||
| NM_005751.4:c.10848G= , LRG_331t1:c.10848G= (AKAP9) | NP_005742.4:p.Leu3616= | |
| NM_147185.2:c.10824G= (AKAP9) | NP_671714.1:p.Leu3608= | |
| XM_006715827.1:c.10707G= (AKAP9) | XP_006715890.1:p.Leu3569= | |
| XM_011515709.1:c.10995G= (AKAP9) | XP_011514011.1:p.Leu3665= | |
| XM_011515710.1:c.11019G= (AKAP9) | XP_011514012.1:p.Leu3673= | |
| XM_011515711.1:c.10959G= (AKAP9) | XP_011514013.1:p.Leu3653= | |
| XM_011515712.1:c.10956G= (AKAP9) | XP_011514014.1:p.Leu3652= | |
| XM_011515713.1:c.10941G= (AKAP9) | XP_011514015.1:p.Leu3647= | |
| XM_011515714.1:c.10980G= (AKAP9) | XP_011514016.1:p.Leu3660= | |
| XM_011515716.1:c.10899G= (AKAP9) | XP_011514018.1:p.Leu3633= | |
| XM_011515717.1:c.10854G= (AKAP9) | XP_011514019.1:p.Leu3618= | |
| XM_011515718.1:c.10884G= (AKAP9) | XP_011514020.1:p.Leu3628= | |
| XM_011515719.1:c.10860G= (AKAP9) | XP_011514021.1:p.Leu3620= | |
| XM_011515721.1:c.5508G= (AKAP9) | XP_011514023.1:p.Leu1836= | |
| XM_011515722.1:c.5469G= (AKAP9) | XP_011514024.1:p.Leu1823= | |
| XM_017011642.2:c.10983G= (AKAP9) | XP_016867131.1:p.Leu3661= | |
| XM_017011643.2:c.10944G= (AKAP9) | XP_016867132.1:p.Leu3648= | |
| XM_017011644.2:c.10983G= (AKAP9) | XP_016867133.1:p.Leu3661= | |
| XM_017011645.2:c.10929G= (AKAP9) | XP_016867134.1:p.Leu3643= | |
| XM_017011646.2:c.10944G= (AKAP9) | XP_016867135.1:p.Leu3648= | |
| XM_017011647.2:c.10890G= (AKAP9) | XP_016867136.1:p.Leu3630= | |
| XM_017011648.2:c.10887G= (AKAP9) | XP_016867137.1:p.Leu3629= | |
| XM_017011649.2:c.10920G= (AKAP9) | XP_016867138.1:p.Leu3640= | |
| XM_017011650.2:c.10848G= (AKAP9) | XP_016867139.1:p.Leu3616= | |
| XM_017011651.2:c.10842G= (AKAP9) | XP_016867140.1:p.Leu3614= | |
| XM_017011652.2:c.10794G= (AKAP9) | XP_016867141.1:p.Leu3598= | |
| XM_017011653.2:c.10755G= (AKAP9) | XP_016867142.1:p.Leu3585= | |
| XM_017011654.2:c.10707G= (AKAP9) | XP_016867143.1:p.Leu3569= | |
| XM_017011655.2:c.10611G= (AKAP9) | XP_016867144.1:p.Leu3537= | |
| XM_017011656.2:c.10611G= (AKAP9) | XP_016867145.1:p.Leu3537= | |
| XM_017011657.2:c.6648G= (AKAP9) | XP_016867146.1:p.Leu2216= | |
| XM_017011658.2:c.5532G= (AKAP9) | XP_016867147.1:p.Leu1844= | |
| XM_017011659.2:c.5493G= (AKAP9) | XP_016867148.1:p.Leu1831= | |
| XM_017011660.2:c.5493G= (AKAP9) | XP_016867149.1:p.Leu1831= | |
| XM_024446631.1:c.10746G= (AKAP9) | XP_024302399.1:p.Leu3582= | |
| NM_147185.3:c.10824G= (AKAP9) | NP_671714.1:p.Leu3608= | |
| NM_001379277.1:c.5493G= (AKAP9) | NP_001366206.1:p.Leu1831= | |
| NM_005751.5:c.10848G= (AKAP9) MANE Select | NP_005742.4:p.Leu3616= |