Canonical Allele Identifier: CA4338179
Community Standard Title: NM_005751.5(AKAP9):c.11360G>A (p.Arg3787Gln)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92105707G>A , CM000669.2:g.92105707G>A GRCh38
NC_000007.13:g.91735021G>A , CM000669.1:g.91735021G>A GRCh37
NC_000007.12:g.91572957G>A NCBI36
NG_011623.1:g.169833G>A , LRG_331:g.169833G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.11360G>A (AKAP9) MANE Select NP_005742.4:p.Arg3787Gln
ENST00000356239.8:c.11360G>A (AKAP9) MANE Select ENSP00000348573.3:p.Arg3787Gln
NM_001379277.1:c.6005G>A (AKAP9) NP_001366206.1:p.Arg2002Gln
NM_005751.4:c.11360G>A , LRG_331t1:c.11360G>A (AKAP9) NP_005742.4:p.Arg3787Gln
NM_147185.2:c.11336G>A (AKAP9) NP_671714.1:p.Arg3779Gln
NM_147185.3:c.11336G>A (AKAP9) NP_671714.1:p.Arg3779Gln
ENST00000356239.7:c.11360G>A (AKAP9) ENSP00000348573.3:p.Arg3787Gln
ENST00000359028.6:c.11369G>A (AKAP9) ENSP00000351922.3:p.Arg3790Gln
ENST00000359028.7:c.11432G>A (AKAP9) ENSP00000351922.4:p.Arg3811Gln
ENST00000394534.6:c.4898G>A (AKAP9) ENSP00000378042.2:p.Arg1633Gln
ENST00000394534.7:c.4352G>A (AKAP9) ENSP00000378042.3:p.Arg1451Gln
ENST00000463118.1:n.615G>A (AKAP9)
ENST00000463118.2:n.615G>A (AKAP9)
ENST00000486313.1:n.238+2881G>A (AKAP9)
ENST00000486313.2:c.818+2881G>A (AKAP9) ENSP00000505389.1:n.818+2881G>A
ENST00000487258.5:n.3110G>A (AKAP9)
ENST00000487692.2:n.3176-1586G>A (AKAP9)
ENST00000491695.2:c.6005G>A (AKAP9) ENSP00000494626.2:p.Arg2002Gln
ENST00000493976.1:n.31G>A (AKAP9)
ENST00000679448.1:c.*2240G>A (AKAP9) ENSP00000505889.1:n.*2240G>A
ENST00000679457.1:c.11307-1586G>A (AKAP9) ENSP00000505450.1:n.11307-1586G>A
ENST00000679474.1:n.12544G>A (AKAP9)
ENST00000679521.1:c.11306G>A (AKAP9) ENSP00000505456.1:p.Arg3769Gln
ENST00000679821.1:c.11102G>A (AKAP9) ENSP00000506040.1:p.Arg3701Gln
ENST00000680047.1:n.13030G>A (AKAP9)
ENST00000680072.1:c.11183G>A (AKAP9) ENSP00000506581.1:p.Arg3728Gln
ENST00000680181.1:c.11267G>A (AKAP9) ENSP00000505548.1:p.Arg3756Gln
ENST00000680365.1:c.4999G>A (AKAP9) ENSP00000506019.1:n.4999G>A
ENST00000680513.1:c.11219G>A (AKAP9) ENSP00000505284.1:p.Arg3740Gln
ENST00000680534.1:c.11399G>A (AKAP9) ENSP00000506674.1:p.Arg3800Gln
ENST00000680766.1:c.11336G>A (AKAP9) ENSP00000505204.1:p.Arg3779Gln
ENST00000680952.1:c.11307-2787G>A (AKAP9) ENSP00000506407.1:n.11307-2787G>A
ENST00000681216.1:c.5120G>A (AKAP9) ENSP00000505551.1:n.5120G>A
ENST00000681412.1:c.11360G>A (AKAP9) ENSP00000506486.1:p.Arg3787Gln
ENST00000681722.1:c.11336G>A (AKAP9) ENSP00000506566.1:p.Arg3779Gln
ENST00000691309.1:c.1351+11337C>T (CYP51A1) ENSP00000510368.1:n.1351+11337C>T
XM_006715827.1:c.11219G>A (AKAP9) XP_006715890.1:p.Arg3740Gln
XM_011515709.1:c.11507G>A (AKAP9) XP_011514011.1:p.Arg3836Gln
XM_011515710.1:c.11531G>A (AKAP9) XP_011514012.1:p.Arg3844Gln
XM_011515711.1:c.11471G>A (AKAP9) XP_011514013.1:p.Arg3824Gln
XM_011515712.1:c.11468G>A (AKAP9) XP_011514014.1:p.Arg3823Gln
XM_011515713.1:c.11453G>A (AKAP9) XP_011514015.1:p.Arg3818Gln
XM_011515714.1:c.11492G>A (AKAP9) XP_011514016.1:p.Arg3831Gln
XM_011515716.1:c.11411G>A (AKAP9) XP_011514018.1:p.Arg3804Gln
XM_011515717.1:c.11366G>A (AKAP9) XP_011514019.1:p.Arg3789Gln
XM_011515718.1:c.11396G>A (AKAP9) XP_011514020.1:p.Arg3799Gln
XM_011515719.1:c.11372G>A (AKAP9) XP_011514021.1:p.Arg3791Gln
XM_011515721.1:c.6020G>A (AKAP9) XP_011514023.1:p.Arg2007Gln
XM_011515722.1:c.5981G>A (AKAP9) XP_011514024.1:p.Arg1994Gln
XM_017011642.2:c.11495G>A (AKAP9) XP_016867131.1:p.Arg3832Gln
XM_017011643.2:c.11456G>A (AKAP9) XP_016867132.1:p.Arg3819Gln
XM_017011644.2:c.11495G>A (AKAP9) XP_016867133.1:p.Arg3832Gln
XM_017011645.2:c.11441G>A (AKAP9) XP_016867134.1:p.Arg3814Gln
XM_017011646.2:c.11456G>A (AKAP9) XP_016867135.1:p.Arg3819Gln
XM_017011647.2:c.11402G>A (AKAP9) XP_016867136.1:p.Arg3801Gln
XM_017011648.2:c.11399G>A (AKAP9) XP_016867137.1:p.Arg3800Gln
XM_017011649.2:c.11432G>A (AKAP9) XP_016867138.1:p.Arg3811Gln
XM_017011650.2:c.11360G>A (AKAP9) XP_016867139.1:p.Arg3787Gln
XM_017011651.2:c.11354G>A (AKAP9) XP_016867140.1:p.Arg3785Gln
XM_017011652.2:c.11306G>A (AKAP9) XP_016867141.1:p.Arg3769Gln
XM_017011653.2:c.11267G>A (AKAP9) XP_016867142.1:p.Arg3756Gln
XM_017011654.2:c.11219G>A (AKAP9) XP_016867143.1:p.Arg3740Gln
XM_017011655.2:c.11123G>A (AKAP9) XP_016867144.1:p.Arg3708Gln
XM_017011656.2:c.11123G>A (AKAP9) XP_016867145.1:p.Arg3708Gln
XM_017011657.2:c.7160G>A (AKAP9) XP_016867146.1:p.Arg2387Gln
XM_017011658.2:c.6044G>A (AKAP9) XP_016867147.1:p.Arg2015Gln
XM_017011659.2:c.6005G>A (AKAP9) XP_016867148.1:p.Arg2002Gln
XM_017011660.2:c.6005G>A (AKAP9) XP_016867149.1:p.Arg2002Gln
XM_024446631.1:c.11258G>A (AKAP9) XP_024302399.1:p.Arg3753Gln