Revel Score:
ENST00000356239 (MANE Select)
0.115
ENST00000359028
0.115
ENST00000358100
0.115
ENST00000413120
0.115
ENST00000394534
0.115
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005787 (EAS)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00004907 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92099853G>A , CM000669.2:g.92099853G>A | GRCh38 |
| NC_000007.13:g.91729167G>A , CM000669.1:g.91729167G>A | GRCh37 |
| NC_000007.12:g.91567103G>A | NCBI36 |
| NG_011623.1:g.163979G>A , LRG_331:g.163979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-14251C>T (CYP51A1) | ENSP00000510368.1:n.1352-14251C>T | |
| ENST00000356239.8:c.10880G>A (AKAP9) MANE Select | ENSP00000348573.3:p.Gly3627Glu | |
| ENST00000359028.7:c.10952G>A (AKAP9) | ENSP00000351922.4:p.Gly3651Glu | |
| ENST00000394534.7:c.3872G>A (AKAP9) | ENSP00000378042.3:p.Gly1291Glu | |
| ENST00000463118.2:n.228G>A (AKAP9) | ||
| ENST00000486313.2:c.368G>A (AKAP9) | ENSP00000505389.1:p.Gly123Glu | |
| ENST00000487692.2:n.2958G>A (AKAP9) | ||
| ENST00000491695.2:c.5525G>A (AKAP9) | ENSP00000494626.2:p.Gly1842Glu | |
| ENST00000679448.1:c.*1760G>A (AKAP9) | ENSP00000505889.1:n.*1760G>A | |
| ENST00000679457.1:c.10856G>A (AKAP9) | ENSP00000505450.1:p.Gly3619Glu | |
| ENST00000679474.1:n.11078G>A (AKAP9) | ||
| ENST00000679521.1:c.10826G>A (AKAP9) | ENSP00000505456.1:p.Gly3609Glu | |
| ENST00000679821.1:c.10622G>A (AKAP9) | ENSP00000506040.1:p.Gly3541Glu | |
| ENST00000680047.1:n.12550G>A (AKAP9) | ||
| ENST00000680072.1:c.10703G>A (AKAP9) | ENSP00000506581.1:p.Gly3568Glu | |
| ENST00000680181.1:c.10787G>A (AKAP9) | ENSP00000505548.1:p.Gly3596Glu | |
| ENST00000680365.1:c.4519G>A (AKAP9) | ENSP00000506019.1:n.4519G>A | |
| ENST00000680513.1:c.10739G>A (AKAP9) | ENSP00000505284.1:p.Gly3580Glu | |
| ENST00000680534.1:c.10919G>A (AKAP9) | ENSP00000506674.1:p.Gly3640Glu | |
| ENST00000680766.1:c.10856G>A (AKAP9) | ENSP00000505204.1:p.Gly3619Glu | |
| ENST00000680952.1:c.10856G>A (AKAP9) | ENSP00000506407.1:p.Gly3619Glu | |
| ENST00000681216.1:c.4640G>A (AKAP9) | ENSP00000505551.1:n.4640G>A | |
| ENST00000681412.1:c.10880G>A (AKAP9) | ENSP00000506486.1:p.Gly3627Glu | |
| ENST00000681722.1:c.10856G>A (AKAP9) | ENSP00000506566.1:p.Gly3619Glu | |
| ENST00000356239.7:c.10880G>A (AKAP9) | ENSP00000348573.3:p.Gly3627Glu | |
| ENST00000359028.6:c.10889G>A (AKAP9) | ENSP00000351922.3:p.Gly3630Glu | |
| ENST00000394534.6:c.4418G>A (AKAP9) | ENSP00000378042.2:p.Gly1473Glu | |
| ENST00000463118.1:n.228G>A (AKAP9) | ||
| ENST00000487258.5:n.2630G>A (AKAP9) | ||
| ENST00000487692.1:n.680G>A (AKAP9) | ||
| NM_005751.4:c.10880G>A , LRG_331t1:c.10880G>A (AKAP9) | NP_005742.4:p.Gly3627Glu | |
| NM_147185.2:c.10856G>A (AKAP9) | NP_671714.1:p.Gly3619Glu | |
| XM_006715827.1:c.10739G>A (AKAP9) | XP_006715890.1:p.Gly3580Glu | |
| XM_011515709.1:c.11027G>A (AKAP9) | XP_011514011.1:p.Gly3676Glu | |
| XM_011515710.1:c.11051G>A (AKAP9) | XP_011514012.1:p.Gly3684Glu | |
| XM_011515711.1:c.10991G>A (AKAP9) | XP_011514013.1:p.Gly3664Glu | |
| XM_011515712.1:c.10988G>A (AKAP9) | XP_011514014.1:p.Gly3663Glu | |
| XM_011515713.1:c.10973G>A (AKAP9) | XP_011514015.1:p.Gly3658Glu | |
| XM_011515714.1:c.11012G>A (AKAP9) | XP_011514016.1:p.Gly3671Glu | |
| XM_011515716.1:c.10931G>A (AKAP9) | XP_011514018.1:p.Gly3644Glu | |
| XM_011515717.1:c.10886G>A (AKAP9) | XP_011514019.1:p.Gly3629Glu | |
| XM_011515718.1:c.10916G>A (AKAP9) | XP_011514020.1:p.Gly3639Glu | |
| XM_011515719.1:c.10892G>A (AKAP9) | XP_011514021.1:p.Gly3631Glu | |
| XM_011515721.1:c.5540G>A (AKAP9) | XP_011514023.1:p.Gly1847Glu | |
| XM_011515722.1:c.5501G>A (AKAP9) | XP_011514024.1:p.Gly1834Glu | |
| XM_017011642.2:c.11015G>A (AKAP9) | XP_016867131.1:p.Gly3672Glu | |
| XM_017011643.2:c.10976G>A (AKAP9) | XP_016867132.1:p.Gly3659Glu | |
| XM_017011644.2:c.11015G>A (AKAP9) | XP_016867133.1:p.Gly3672Glu | |
| XM_017011645.2:c.10961G>A (AKAP9) | XP_016867134.1:p.Gly3654Glu | |
| XM_017011646.2:c.10976G>A (AKAP9) | XP_016867135.1:p.Gly3659Glu | |
| XM_017011647.2:c.10922G>A (AKAP9) | XP_016867136.1:p.Gly3641Glu | |
| XM_017011648.2:c.10919G>A (AKAP9) | XP_016867137.1:p.Gly3640Glu | |
| XM_017011649.2:c.10952G>A (AKAP9) | XP_016867138.1:p.Gly3651Glu | |
| XM_017011650.2:c.10880G>A (AKAP9) | XP_016867139.1:p.Gly3627Glu | |
| XM_017011651.2:c.10874G>A (AKAP9) | XP_016867140.1:p.Gly3625Glu | |
| XM_017011652.2:c.10826G>A (AKAP9) | XP_016867141.1:p.Gly3609Glu | |
| XM_017011653.2:c.10787G>A (AKAP9) | XP_016867142.1:p.Gly3596Glu | |
| XM_017011654.2:c.10739G>A (AKAP9) | XP_016867143.1:p.Gly3580Glu | |
| XM_017011655.2:c.10643G>A (AKAP9) | XP_016867144.1:p.Gly3548Glu | |
| XM_017011656.2:c.10643G>A (AKAP9) | XP_016867145.1:p.Gly3548Glu | |
| XM_017011657.2:c.6680G>A (AKAP9) | XP_016867146.1:p.Gly2227Glu | |
| XM_017011658.2:c.5564G>A (AKAP9) | XP_016867147.1:p.Gly1855Glu | |
| XM_017011659.2:c.5525G>A (AKAP9) | XP_016867148.1:p.Gly1842Glu | |
| XM_017011660.2:c.5525G>A (AKAP9) | XP_016867149.1:p.Gly1842Glu | |
| XM_024446631.1:c.10778G>A (AKAP9) | XP_024302399.1:p.Gly3593Glu | |
| NM_147185.3:c.10856G>A (AKAP9) | NP_671714.1:p.Gly3619Glu | |
| NM_001379277.1:c.5525G>A (AKAP9) | NP_001366206.1:p.Gly1842Glu | |
| NM_005751.5:c.10880G>A (AKAP9) MANE Select | NP_005742.4:p.Gly3627Glu |