Canonical Allele Identifier: CA368158408
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92099718G>T , CM000669.2:g.92099718G>T GRCh38
NC_000007.13:g.91729032G>T , CM000669.1:g.91729032G>T GRCh37
NC_000007.12:g.91566968G>T NCBI36
NG_011623.1:g.163844G>T , LRG_331:g.163844G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691309.1:c.1352-14116C>A (CYP51A1) ENSP00000510368.1:n.1352-14116C>A
ENST00000356239.8:c.10745G>T (AKAP9) MANE Select ENSP00000348573.3:p.Gly3582Val
ENST00000359028.7:c.10817G>T (AKAP9) ENSP00000351922.4:p.Gly3606Val
ENST00000394534.7:c.3737G>T (AKAP9) ENSP00000378042.3:p.Gly1246Val
ENST00000463118.2:n.93G>T (AKAP9)
ENST00000486313.2:c.233G>T (AKAP9) ENSP00000505389.1:p.Gly78Val
ENST00000487692.2:n.2823G>T (AKAP9)
ENST00000491695.2:c.5390G>T (AKAP9) ENSP00000494626.2:p.Gly1797Val
ENST00000679448.1:c.*1625G>T (AKAP9) ENSP00000505889.1:n.*1625G>T
ENST00000679457.1:c.10721G>T (AKAP9) ENSP00000505450.1:p.Gly3574Val
ENST00000679474.1:n.10943G>T (AKAP9)
ENST00000679521.1:c.10691G>T (AKAP9) ENSP00000505456.1:p.Gly3564Val
ENST00000679821.1:c.10487G>T (AKAP9) ENSP00000506040.1:p.Gly3496Val
ENST00000680047.1:n.12415G>T (AKAP9)
ENST00000680072.1:c.10568G>T (AKAP9) ENSP00000506581.1:p.Gly3523Val
ENST00000680181.1:c.10652G>T (AKAP9) ENSP00000505548.1:p.Gly3551Val
ENST00000680365.1:c.4384G>T (AKAP9) ENSP00000506019.1:n.4384G>T
ENST00000680513.1:c.10604G>T (AKAP9) ENSP00000505284.1:p.Gly3535Val
ENST00000680534.1:c.10784G>T (AKAP9) ENSP00000506674.1:p.Gly3595Val
ENST00000680766.1:c.10721G>T (AKAP9) ENSP00000505204.1:p.Gly3574Val
ENST00000680952.1:c.10721G>T (AKAP9) ENSP00000506407.1:p.Gly3574Val
ENST00000681216.1:c.4505G>T (AKAP9) ENSP00000505551.1:n.4505G>T
ENST00000681412.1:c.10745G>T (AKAP9) ENSP00000506486.1:p.Gly3582Val
ENST00000681722.1:c.10721G>T (AKAP9) ENSP00000506566.1:p.Gly3574Val
ENST00000356239.7:c.10745G>T (AKAP9) ENSP00000348573.3:p.Gly3582Val
ENST00000359028.6:c.10754G>T (AKAP9) ENSP00000351922.3:p.Gly3585Val
ENST00000394534.6:c.4283G>T (AKAP9) ENSP00000378042.2:p.Gly1428Val
ENST00000463118.1:n.93G>T (AKAP9)
ENST00000487258.5:n.2495G>T (AKAP9)
ENST00000487692.1:n.545G>T (AKAP9)
NM_005751.4:c.10745G>T , LRG_331t1:c.10745G>T (AKAP9) NP_005742.4:p.Gly3582Val
NM_147185.2:c.10721G>T (AKAP9) NP_671714.1:p.Gly3574Val
XM_006715827.1:c.10604G>T (AKAP9) XP_006715890.1:p.Gly3535Val
XM_011515709.1:c.10892G>T (AKAP9) XP_011514011.1:p.Gly3631Val
XM_011515710.1:c.10916G>T (AKAP9) XP_011514012.1:p.Gly3639Val
XM_011515711.1:c.10856G>T (AKAP9) XP_011514013.1:p.Gly3619Val
XM_011515712.1:c.10853G>T (AKAP9) XP_011514014.1:p.Gly3618Val
XM_011515713.1:c.10838G>T (AKAP9) XP_011514015.1:p.Gly3613Val
XM_011515714.1:c.10877G>T (AKAP9) XP_011514016.1:p.Gly3626Val
XM_011515716.1:c.10796G>T (AKAP9) XP_011514018.1:p.Gly3599Val
XM_011515717.1:c.10751G>T (AKAP9) XP_011514019.1:p.Gly3584Val
XM_011515718.1:c.10781G>T (AKAP9) XP_011514020.1:p.Gly3594Val
XM_011515719.1:c.10757G>T (AKAP9) XP_011514021.1:p.Gly3586Val
XM_011515721.1:c.5405G>T (AKAP9) XP_011514023.1:p.Gly1802Val
XM_011515722.1:c.5366G>T (AKAP9) XP_011514024.1:p.Gly1789Val
XM_017011642.2:c.10880G>T (AKAP9) XP_016867131.1:p.Gly3627Val
XM_017011643.2:c.10841G>T (AKAP9) XP_016867132.1:p.Gly3614Val
XM_017011644.2:c.10880G>T (AKAP9) XP_016867133.1:p.Gly3627Val
XM_017011645.2:c.10826G>T (AKAP9) XP_016867134.1:p.Gly3609Val
XM_017011646.2:c.10841G>T (AKAP9) XP_016867135.1:p.Gly3614Val
XM_017011647.2:c.10787G>T (AKAP9) XP_016867136.1:p.Gly3596Val
XM_017011648.2:c.10784G>T (AKAP9) XP_016867137.1:p.Gly3595Val
XM_017011649.2:c.10817G>T (AKAP9) XP_016867138.1:p.Gly3606Val
XM_017011650.2:c.10745G>T (AKAP9) XP_016867139.1:p.Gly3582Val
XM_017011651.2:c.10739G>T (AKAP9) XP_016867140.1:p.Gly3580Val
XM_017011652.2:c.10691G>T (AKAP9) XP_016867141.1:p.Gly3564Val
XM_017011653.2:c.10652G>T (AKAP9) XP_016867142.1:p.Gly3551Val
XM_017011654.2:c.10604G>T (AKAP9) XP_016867143.1:p.Gly3535Val
XM_017011655.2:c.10508G>T (AKAP9) XP_016867144.1:p.Gly3503Val
XM_017011656.2:c.10508G>T (AKAP9) XP_016867145.1:p.Gly3503Val
XM_017011657.2:c.6545G>T (AKAP9) XP_016867146.1:p.Gly2182Val
XM_017011658.2:c.5429G>T (AKAP9) XP_016867147.1:p.Gly1810Val
XM_017011659.2:c.5390G>T (AKAP9) XP_016867148.1:p.Gly1797Val
XM_017011660.2:c.5390G>T (AKAP9) XP_016867149.1:p.Gly1797Val
XM_024446631.1:c.10643G>T (AKAP9) XP_024302399.1:p.Gly3548Val
NM_147185.3:c.10721G>T (AKAP9) NP_671714.1:p.Gly3574Val
NM_001379277.1:c.5390G>T (AKAP9) NP_001366206.1:p.Gly1797Val
NM_005751.5:c.10745G>T (AKAP9) MANE Select NP_005742.4:p.Gly3582Val