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.92099721C= , CM000669.2:g.92099721C= | GRCh38 |
| NC_000007.13:g.91729035C= , CM000669.1:g.91729035C= | GRCh37 |
| NC_000007.12:g.91566971C= | NCBI36 |
| NG_011623.1:g.163847C= , LRG_331:g.163847C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691309.1:c.1352-14119G= (CYP51A1) | ENSP00000510368.1:n.1352-14119G= | |
| ENST00000356239.8:c.10748C= (AKAP9) MANE Select | ENSP00000348573.3:p.Ser3583= | |
| ENST00000359028.7:c.10820C= (AKAP9) | ENSP00000351922.4:p.Ser3607= | |
| ENST00000394534.7:c.3740C= (AKAP9) | ENSP00000378042.3:p.Ser1247= | |
| ENST00000463118.2:n.96C= (AKAP9) | ||
| ENST00000486313.2:c.236C= (AKAP9) | ENSP00000505389.1:p.Ser79= | |
| ENST00000487692.2:n.2826C= (AKAP9) | ||
| ENST00000491695.2:c.5393C= (AKAP9) | ENSP00000494626.2:p.Ser1798= | |
| ENST00000679448.1:c.*1628C= (AKAP9) | ENSP00000505889.1:n.*1628C= | |
| ENST00000679457.1:c.10724C= (AKAP9) | ENSP00000505450.1:p.Ser3575= | |
| ENST00000679474.1:n.10946C= (AKAP9) | ||
| ENST00000679521.1:c.10694C= (AKAP9) | ENSP00000505456.1:p.Ser3565= | |
| ENST00000679821.1:c.10490C= (AKAP9) | ENSP00000506040.1:p.Ser3497= | |
| ENST00000680047.1:n.12418C= (AKAP9) | ||
| ENST00000680072.1:c.10571C= (AKAP9) | ENSP00000506581.1:p.Ser3524= | |
| ENST00000680181.1:c.10655C= (AKAP9) | ENSP00000505548.1:p.Ser3552= | |
| ENST00000680365.1:c.4387C= (AKAP9) | ENSP00000506019.1:n.4387C= | |
| ENST00000680513.1:c.10607C= (AKAP9) | ENSP00000505284.1:p.Ser3536= | |
| ENST00000680534.1:c.10787C= (AKAP9) | ENSP00000506674.1:p.Ser3596= | |
| ENST00000680766.1:c.10724C= (AKAP9) | ENSP00000505204.1:p.Ser3575= | |
| ENST00000680952.1:c.10724C= (AKAP9) | ENSP00000506407.1:p.Ser3575= | |
| ENST00000681216.1:c.4508C= (AKAP9) | ENSP00000505551.1:n.4508C= | |
| ENST00000681412.1:c.10748C= (AKAP9) | ENSP00000506486.1:p.Ser3583= | |
| ENST00000681722.1:c.10724C= (AKAP9) | ENSP00000506566.1:p.Ser3575= | |
| ENST00000356239.7:c.10748C= (AKAP9) | ENSP00000348573.3:p.Ser3583= | |
| ENST00000359028.6:c.10757C= (AKAP9) | ENSP00000351922.3:p.Ser3586= | |
| ENST00000394534.6:c.4286C= (AKAP9) | ENSP00000378042.2:p.Ser1429= | |
| ENST00000463118.1:n.96C= (AKAP9) | ||
| ENST00000487258.5:n.2498C= (AKAP9) | ||
| ENST00000487692.1:n.548C= (AKAP9) | ||
| NM_005751.4:c.10748C= , LRG_331t1:c.10748C= (AKAP9) | NP_005742.4:p.Ser3583= | |
| NM_147185.2:c.10724C= (AKAP9) | NP_671714.1:p.Ser3575= | |
| XM_006715827.1:c.10607C= (AKAP9) | XP_006715890.1:p.Ser3536= | |
| XM_011515709.1:c.10895C= (AKAP9) | XP_011514011.1:p.Ser3632= | |
| XM_011515710.1:c.10919C= (AKAP9) | XP_011514012.1:p.Ser3640= | |
| XM_011515711.1:c.10859C= (AKAP9) | XP_011514013.1:p.Ser3620= | |
| XM_011515712.1:c.10856C= (AKAP9) | XP_011514014.1:p.Ser3619= | |
| XM_011515713.1:c.10841C= (AKAP9) | XP_011514015.1:p.Ser3614= | |
| XM_011515714.1:c.10880C= (AKAP9) | XP_011514016.1:p.Ser3627= | |
| XM_011515716.1:c.10799C= (AKAP9) | XP_011514018.1:p.Ser3600= | |
| XM_011515717.1:c.10754C= (AKAP9) | XP_011514019.1:p.Ser3585= | |
| XM_011515718.1:c.10784C= (AKAP9) | XP_011514020.1:p.Ser3595= | |
| XM_011515719.1:c.10760C= (AKAP9) | XP_011514021.1:p.Ser3587= | |
| XM_011515721.1:c.5408C= (AKAP9) | XP_011514023.1:p.Ser1803= | |
| XM_011515722.1:c.5369C= (AKAP9) | XP_011514024.1:p.Ser1790= | |
| XM_017011642.2:c.10883C= (AKAP9) | XP_016867131.1:p.Ser3628= | |
| XM_017011643.2:c.10844C= (AKAP9) | XP_016867132.1:p.Ser3615= | |
| XM_017011644.2:c.10883C= (AKAP9) | XP_016867133.1:p.Ser3628= | |
| XM_017011645.2:c.10829C= (AKAP9) | XP_016867134.1:p.Ser3610= | |
| XM_017011646.2:c.10844C= (AKAP9) | XP_016867135.1:p.Ser3615= | |
| XM_017011647.2:c.10790C= (AKAP9) | XP_016867136.1:p.Ser3597= | |
| XM_017011648.2:c.10787C= (AKAP9) | XP_016867137.1:p.Ser3596= | |
| XM_017011649.2:c.10820C= (AKAP9) | XP_016867138.1:p.Ser3607= | |
| XM_017011650.2:c.10748C= (AKAP9) | XP_016867139.1:p.Ser3583= | |
| XM_017011651.2:c.10742C= (AKAP9) | XP_016867140.1:p.Ser3581= | |
| XM_017011652.2:c.10694C= (AKAP9) | XP_016867141.1:p.Ser3565= | |
| XM_017011653.2:c.10655C= (AKAP9) | XP_016867142.1:p.Ser3552= | |
| XM_017011654.2:c.10607C= (AKAP9) | XP_016867143.1:p.Ser3536= | |
| XM_017011655.2:c.10511C= (AKAP9) | XP_016867144.1:p.Ser3504= | |
| XM_017011656.2:c.10511C= (AKAP9) | XP_016867145.1:p.Ser3504= | |
| XM_017011657.2:c.6548C= (AKAP9) | XP_016867146.1:p.Ser2183= | |
| XM_017011658.2:c.5432C= (AKAP9) | XP_016867147.1:p.Ser1811= | |
| XM_017011659.2:c.5393C= (AKAP9) | XP_016867148.1:p.Ser1798= | |
| XM_017011660.2:c.5393C= (AKAP9) | XP_016867149.1:p.Ser1798= | |
| XM_024446631.1:c.10646C= (AKAP9) | XP_024302399.1:p.Ser3549= | |
| NM_147185.3:c.10724C= (AKAP9) | NP_671714.1:p.Ser3575= | |
| NM_001379277.1:c.5393C= (AKAP9) | NP_001366206.1:p.Ser1798= | |
| NM_005751.5:c.10748C= (AKAP9) MANE Select | NP_005742.4:p.Ser3583= |