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.92099831A= , CM000669.2:g.92099831A= | GRCh38 |
| NC_000007.13:g.91729145A= , CM000669.1:g.91729145A= | GRCh37 |
| NC_000007.12:g.91567081A= | NCBI36 |
| NG_011623.1:g.163957A= , LRG_331:g.163957A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691309.1:c.1352-14229T= (CYP51A1) | ENSP00000510368.1:n.1352-14229T= | |
| ENST00000356239.8:c.10858A= (AKAP9) MANE Select | ENSP00000348573.3:p.Ile3620= | |
| ENST00000359028.7:c.10930A= (AKAP9) | ENSP00000351922.4:p.Ile3644= | |
| ENST00000394534.7:c.3850A= (AKAP9) | ENSP00000378042.3:p.Ile1284= | |
| ENST00000463118.2:n.206A= (AKAP9) | ||
| ENST00000486313.2:c.346A= (AKAP9) | ENSP00000505389.1:p.Ile116= | |
| ENST00000487692.2:n.2936A= (AKAP9) | ||
| ENST00000491695.2:c.5503A= (AKAP9) | ENSP00000494626.2:p.Ile1835= | |
| ENST00000679448.1:c.*1738A= (AKAP9) | ENSP00000505889.1:n.*1738A= | |
| ENST00000679457.1:c.10834A= (AKAP9) | ENSP00000505450.1:p.Ile3612= | |
| ENST00000679474.1:n.11056A= (AKAP9) | ||
| ENST00000679521.1:c.10804A= (AKAP9) | ENSP00000505456.1:p.Ile3602= | |
| ENST00000679821.1:c.10600A= (AKAP9) | ENSP00000506040.1:p.Ile3534= | |
| ENST00000680047.1:n.12528A= (AKAP9) | ||
| ENST00000680072.1:c.10681A= (AKAP9) | ENSP00000506581.1:p.Ile3561= | |
| ENST00000680181.1:c.10765A= (AKAP9) | ENSP00000505548.1:p.Ile3589= | |
| ENST00000680365.1:c.4497A= (AKAP9) | ENSP00000506019.1:n.4497A= | |
| ENST00000680513.1:c.10717A= (AKAP9) | ENSP00000505284.1:p.Ile3573= | |
| ENST00000680534.1:c.10897A= (AKAP9) | ENSP00000506674.1:p.Ile3633= | |
| ENST00000680766.1:c.10834A= (AKAP9) | ENSP00000505204.1:p.Ile3612= | |
| ENST00000680952.1:c.10834A= (AKAP9) | ENSP00000506407.1:p.Ile3612= | |
| ENST00000681216.1:c.4618A= (AKAP9) | ENSP00000505551.1:n.4618A= | |
| ENST00000681412.1:c.10858A= (AKAP9) | ENSP00000506486.1:p.Ile3620= | |
| ENST00000681722.1:c.10834A= (AKAP9) | ENSP00000506566.1:p.Ile3612= | |
| ENST00000356239.7:c.10858A= (AKAP9) | ENSP00000348573.3:p.Ile3620= | |
| ENST00000359028.6:c.10867A= (AKAP9) | ENSP00000351922.3:p.Ile3623= | |
| ENST00000394534.6:c.4396A= (AKAP9) | ENSP00000378042.2:p.Ile1466= | |
| ENST00000463118.1:n.206A= (AKAP9) | ||
| ENST00000487258.5:n.2608A= (AKAP9) | ||
| ENST00000487692.1:n.658A= (AKAP9) | ||
| NM_005751.4:c.10858A= , LRG_331t1:c.10858A= (AKAP9) | NP_005742.4:p.Ile3620= | |
| NM_147185.2:c.10834A= (AKAP9) | NP_671714.1:p.Ile3612= | |
| XM_006715827.1:c.10717A= (AKAP9) | XP_006715890.1:p.Ile3573= | |
| XM_011515709.1:c.11005A= (AKAP9) | XP_011514011.1:p.Ile3669= | |
| XM_011515710.1:c.11029A= (AKAP9) | XP_011514012.1:p.Ile3677= | |
| XM_011515711.1:c.10969A= (AKAP9) | XP_011514013.1:p.Ile3657= | |
| XM_011515712.1:c.10966A= (AKAP9) | XP_011514014.1:p.Ile3656= | |
| XM_011515713.1:c.10951A= (AKAP9) | XP_011514015.1:p.Ile3651= | |
| XM_011515714.1:c.10990A= (AKAP9) | XP_011514016.1:p.Ile3664= | |
| XM_011515716.1:c.10909A= (AKAP9) | XP_011514018.1:p.Ile3637= | |
| XM_011515717.1:c.10864A= (AKAP9) | XP_011514019.1:p.Ile3622= | |
| XM_011515718.1:c.10894A= (AKAP9) | XP_011514020.1:p.Ile3632= | |
| XM_011515719.1:c.10870A= (AKAP9) | XP_011514021.1:p.Ile3624= | |
| XM_011515721.1:c.5518A= (AKAP9) | XP_011514023.1:p.Ile1840= | |
| XM_011515722.1:c.5479A= (AKAP9) | XP_011514024.1:p.Ile1827= | |
| XM_017011642.2:c.10993A= (AKAP9) | XP_016867131.1:p.Ile3665= | |
| XM_017011643.2:c.10954A= (AKAP9) | XP_016867132.1:p.Ile3652= | |
| XM_017011644.2:c.10993A= (AKAP9) | XP_016867133.1:p.Ile3665= | |
| XM_017011645.2:c.10939A= (AKAP9) | XP_016867134.1:p.Ile3647= | |
| XM_017011646.2:c.10954A= (AKAP9) | XP_016867135.1:p.Ile3652= | |
| XM_017011647.2:c.10900A= (AKAP9) | XP_016867136.1:p.Ile3634= | |
| XM_017011648.2:c.10897A= (AKAP9) | XP_016867137.1:p.Ile3633= | |
| XM_017011649.2:c.10930A= (AKAP9) | XP_016867138.1:p.Ile3644= | |
| XM_017011650.2:c.10858A= (AKAP9) | XP_016867139.1:p.Ile3620= | |
| XM_017011651.2:c.10852A= (AKAP9) | XP_016867140.1:p.Ile3618= | |
| XM_017011652.2:c.10804A= (AKAP9) | XP_016867141.1:p.Ile3602= | |
| XM_017011653.2:c.10765A= (AKAP9) | XP_016867142.1:p.Ile3589= | |
| XM_017011654.2:c.10717A= (AKAP9) | XP_016867143.1:p.Ile3573= | |
| XM_017011655.2:c.10621A= (AKAP9) | XP_016867144.1:p.Ile3541= | |
| XM_017011656.2:c.10621A= (AKAP9) | XP_016867145.1:p.Ile3541= | |
| XM_017011657.2:c.6658A= (AKAP9) | XP_016867146.1:p.Ile2220= | |
| XM_017011658.2:c.5542A= (AKAP9) | XP_016867147.1:p.Ile1848= | |
| XM_017011659.2:c.5503A= (AKAP9) | XP_016867148.1:p.Ile1835= | |
| XM_017011660.2:c.5503A= (AKAP9) | XP_016867149.1:p.Ile1835= | |
| XM_024446631.1:c.10756A= (AKAP9) | XP_024302399.1:p.Ile3586= | |
| NM_147185.3:c.10834A= (AKAP9) | NP_671714.1:p.Ile3612= | |
| NM_001379277.1:c.5503A= (AKAP9) | NP_001366206.1:p.Ile1835= | |
| NM_005751.5:c.10858A= (AKAP9) MANE Select | NP_005742.4:p.Ile3620= |