Canonical Allele Identifier: CA4337876
Community Standard Title: NM_005751.5(AKAP9):c.9970G>A (p.Ala3324Thr)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92096929G>A , CM000669.2:g.92096929G>A GRCh38
NC_000007.13:g.91726243G>A , CM000669.1:g.91726243G>A GRCh37
NC_000007.12:g.91564179G>A NCBI36
NG_011623.1:g.161055G>A , LRG_331:g.161055G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9970G>A (AKAP9) MANE Select NP_005742.4:p.Ala3324Thr
ENST00000356239.8:c.9970G>A (AKAP9) MANE Select ENSP00000348573.3:p.Ala3324Thr
NM_001379277.1:c.4615G>A (AKAP9) NP_001366206.1:p.Ala1539Thr
NM_005751.4:c.9970G>A , LRG_331t1:c.9970G>A (AKAP9) NP_005742.4:p.Ala3324Thr
NM_147185.2:c.9946G>A (AKAP9) NP_671714.1:p.Ala3316Thr
NM_147185.3:c.9946G>A (AKAP9) NP_671714.1:p.Ala3316Thr
ENST00000356239.7:c.9970G>A (AKAP9) ENSP00000348573.3:p.Ala3324Thr
ENST00000359028.6:c.9979G>A (AKAP9) ENSP00000351922.3:p.Ala3327Thr
ENST00000359028.7:c.10042G>A (AKAP9) ENSP00000351922.4:p.Ala3348Thr
ENST00000394534.6:c.3508G>A (AKAP9) ENSP00000378042.2:p.Ala1170Thr
ENST00000394534.7:c.3390+73G>A (AKAP9) ENSP00000378042.3:n.3390+73G>A
ENST00000487258.5:n.1720G>A (AKAP9)
ENST00000487692.2:n.2048G>A (AKAP9)
ENST00000491695.2:c.4615G>A (AKAP9) ENSP00000494626.2:p.Ala1539Thr
ENST00000679448.1:c.*850G>A (AKAP9) ENSP00000505889.1:n.*850G>A
ENST00000679457.1:c.9946G>A (AKAP9) ENSP00000505450.1:p.Ala3316Thr
ENST00000679474.1:n.10168G>A (AKAP9)
ENST00000679521.1:c.9916G>A (AKAP9) ENSP00000505456.1:p.Ala3306Thr
ENST00000679821.1:c.9712G>A (AKAP9) ENSP00000506040.1:p.Ala3238Thr
ENST00000680047.1:n.10168G>A (AKAP9)
ENST00000680072.1:c.9793G>A (AKAP9) ENSP00000506581.1:p.Ala3265Thr
ENST00000680181.1:c.9877G>A (AKAP9) ENSP00000505548.1:p.Ala3293Thr
ENST00000680365.1:c.3609G>A (AKAP9) ENSP00000506019.1:n.3609G>A
ENST00000680513.1:c.9829G>A (AKAP9) ENSP00000505284.1:p.Ala3277Thr
ENST00000680534.1:c.10009G>A (AKAP9) ENSP00000506674.1:p.Ala3337Thr
ENST00000680766.1:c.9946G>A (AKAP9) ENSP00000505204.1:p.Ala3316Thr
ENST00000680952.1:c.9946G>A (AKAP9) ENSP00000506407.1:p.Ala3316Thr
ENST00000681216.1:c.3730G>A (AKAP9) ENSP00000505551.1:n.3730G>A
ENST00000681412.1:c.9970G>A (AKAP9) ENSP00000506486.1:p.Ala3324Thr
ENST00000681722.1:c.9946G>A (AKAP9) ENSP00000506566.1:p.Ala3316Thr
ENST00000691309.1:c.1352-11327C>T (CYP51A1) ENSP00000510368.1:n.1352-11327C>T
XM_006715827.1:c.9829G>A (AKAP9) XP_006715890.1:p.Ala3277Thr
XM_011515709.1:c.10117G>A (AKAP9) XP_011514011.1:p.Ala3373Thr
XM_011515710.1:c.10141G>A (AKAP9) XP_011514012.1:p.Ala3381Thr
XM_011515711.1:c.10081G>A (AKAP9) XP_011514013.1:p.Ala3361Thr
XM_011515712.1:c.10078G>A (AKAP9) XP_011514014.1:p.Ala3360Thr
XM_011515713.1:c.10063G>A (AKAP9) XP_011514015.1:p.Ala3355Thr
XM_011515714.1:c.10102G>A (AKAP9) XP_011514016.1:p.Ala3368Thr
XM_011515716.1:c.10021G>A (AKAP9) XP_011514018.1:p.Ala3341Thr
XM_011515717.1:c.9976G>A (AKAP9) XP_011514019.1:p.Ala3326Thr
XM_011515718.1:c.10006G>A (AKAP9) XP_011514020.1:p.Ala3336Thr
XM_011515719.1:c.9982G>A (AKAP9) XP_011514021.1:p.Ala3328Thr
XM_011515721.1:c.4630G>A (AKAP9) XP_011514023.1:p.Ala1544Thr
XM_011515722.1:c.4591G>A (AKAP9) XP_011514024.1:p.Ala1531Thr
XM_017011642.2:c.10105G>A (AKAP9) XP_016867131.1:p.Ala3369Thr
XM_017011643.2:c.10066G>A (AKAP9) XP_016867132.1:p.Ala3356Thr
XM_017011644.2:c.10105G>A (AKAP9) XP_016867133.1:p.Ala3369Thr
XM_017011645.2:c.10051G>A (AKAP9) XP_016867134.1:p.Ala3351Thr
XM_017011646.2:c.10066G>A (AKAP9) XP_016867135.1:p.Ala3356Thr
XM_017011647.2:c.10012G>A (AKAP9) XP_016867136.1:p.Ala3338Thr
XM_017011648.2:c.10009G>A (AKAP9) XP_016867137.1:p.Ala3337Thr
XM_017011649.2:c.10042G>A (AKAP9) XP_016867138.1:p.Ala3348Thr
XM_017011650.2:c.9970G>A (AKAP9) XP_016867139.1:p.Ala3324Thr
XM_017011651.2:c.9964G>A (AKAP9) XP_016867140.1:p.Ala3322Thr
XM_017011652.2:c.9916G>A (AKAP9) XP_016867141.1:p.Ala3306Thr
XM_017011653.2:c.9877G>A (AKAP9) XP_016867142.1:p.Ala3293Thr
XM_017011654.2:c.9829G>A (AKAP9) XP_016867143.1:p.Ala3277Thr
XM_017011655.2:c.9733G>A (AKAP9) XP_016867144.1:p.Ala3245Thr
XM_017011656.2:c.9733G>A (AKAP9) XP_016867145.1:p.Ala3245Thr
XM_017011657.2:c.5770G>A (AKAP9) XP_016867146.1:p.Ala1924Thr
XM_017011658.2:c.4654G>A (AKAP9) XP_016867147.1:p.Ala1552Thr
XM_017011659.2:c.4615G>A (AKAP9) XP_016867148.1:p.Ala1539Thr
XM_017011660.2:c.4615G>A (AKAP9) XP_016867149.1:p.Ala1539Thr
XM_024446631.1:c.9868G>A (AKAP9) XP_024302399.1:p.Ala3290Thr