Canonical Allele Identifier: CA368159339
Community Standard Title: NM_005751.5(AKAP9):c.10904G>A (p.Arg3635Lys)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92100863G>A , CM000669.2:g.92100863G>A GRCh38
NC_000007.13:g.91730177G>A , CM000669.1:g.91730177G>A GRCh37
NC_000007.12:g.91568113G>A NCBI36
NG_011623.1:g.164989G>A , LRG_331:g.164989G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.10904G>A (AKAP9) MANE Select NP_005742.4:p.Arg3635Lys
ENST00000356239.8:c.10904G>A (AKAP9) MANE Select ENSP00000348573.3:p.Arg3635Lys
NM_001379277.1:c.5549G>A (AKAP9) NP_001366206.1:p.Arg1850Lys
NM_005751.4:c.10904G>A , LRG_331t1:c.10904G>A (AKAP9) NP_005742.4:p.Arg3635Lys
NM_147185.2:c.10880G>A (AKAP9) NP_671714.1:p.Arg3627Lys
NM_147185.3:c.10880G>A (AKAP9) NP_671714.1:p.Arg3627Lys
ENST00000356239.7:c.10904G>A (AKAP9) ENSP00000348573.3:p.Arg3635Lys
ENST00000359028.6:c.10913G>A (AKAP9) ENSP00000351922.3:p.Arg3638Lys
ENST00000359028.7:c.10976G>A (AKAP9) ENSP00000351922.4:p.Arg3659Lys
ENST00000394534.6:c.4442G>A (AKAP9) ENSP00000378042.2:p.Arg1481Lys
ENST00000394534.7:c.3896G>A (AKAP9) ENSP00000378042.3:p.Arg1299Lys
ENST00000463118.1:n.252G>A (AKAP9)
ENST00000463118.2:n.252G>A (AKAP9)
ENST00000486313.2:c.392G>A (AKAP9) ENSP00000505389.1:p.Arg131Lys
ENST00000487258.5:n.2654G>A (AKAP9)
ENST00000487692.2:n.2982G>A (AKAP9)
ENST00000491695.2:c.5549G>A (AKAP9) ENSP00000494626.2:p.Arg1850Lys
ENST00000679448.1:c.*1784G>A (AKAP9) ENSP00000505889.1:n.*1784G>A
ENST00000679457.1:c.10880G>A (AKAP9) ENSP00000505450.1:p.Arg3627Lys
ENST00000679474.1:n.12088G>A (AKAP9)
ENST00000679521.1:c.10850G>A (AKAP9) ENSP00000505456.1:p.Arg3617Lys
ENST00000679821.1:c.10646G>A (AKAP9) ENSP00000506040.1:p.Arg3549Lys
ENST00000680047.1:n.12574G>A (AKAP9)
ENST00000680072.1:c.10727G>A (AKAP9) ENSP00000506581.1:p.Arg3576Lys
ENST00000680181.1:c.10811G>A (AKAP9) ENSP00000505548.1:p.Arg3604Lys
ENST00000680365.1:c.4543G>A (AKAP9) ENSP00000506019.1:n.4543G>A
ENST00000680513.1:c.10763G>A (AKAP9) ENSP00000505284.1:p.Arg3588Lys
ENST00000680534.1:c.10943G>A (AKAP9) ENSP00000506674.1:p.Arg3648Lys
ENST00000680766.1:c.10880G>A (AKAP9) ENSP00000505204.1:p.Arg3627Lys
ENST00000680952.1:c.10880G>A (AKAP9) ENSP00000506407.1:p.Arg3627Lys
ENST00000681216.1:c.4664G>A (AKAP9) ENSP00000505551.1:n.4664G>A
ENST00000681412.1:c.10904G>A (AKAP9) ENSP00000506486.1:p.Arg3635Lys
ENST00000681722.1:c.10880G>A (AKAP9) ENSP00000506566.1:p.Arg3627Lys
ENST00000691309.1:c.1352-15261C>T (CYP51A1) ENSP00000510368.1:n.1352-15261C>T
XM_006715827.1:c.10763G>A (AKAP9) XP_006715890.1:p.Arg3588Lys
XM_011515709.1:c.11051G>A (AKAP9) XP_011514011.1:p.Arg3684Lys
XM_011515710.1:c.11075G>A (AKAP9) XP_011514012.1:p.Arg3692Lys
XM_011515711.1:c.11015G>A (AKAP9) XP_011514013.1:p.Arg3672Lys
XM_011515712.1:c.11012G>A (AKAP9) XP_011514014.1:p.Arg3671Lys
XM_011515713.1:c.10997G>A (AKAP9) XP_011514015.1:p.Arg3666Lys
XM_011515714.1:c.11036G>A (AKAP9) XP_011514016.1:p.Arg3679Lys
XM_011515716.1:c.10955G>A (AKAP9) XP_011514018.1:p.Arg3652Lys
XM_011515717.1:c.10910G>A (AKAP9) XP_011514019.1:p.Arg3637Lys
XM_011515718.1:c.10940G>A (AKAP9) XP_011514020.1:p.Arg3647Lys
XM_011515719.1:c.10916G>A (AKAP9) XP_011514021.1:p.Arg3639Lys
XM_011515721.1:c.5564G>A (AKAP9) XP_011514023.1:p.Arg1855Lys
XM_011515722.1:c.5525G>A (AKAP9) XP_011514024.1:p.Arg1842Lys
XM_017011642.2:c.11039G>A (AKAP9) XP_016867131.1:p.Arg3680Lys
XM_017011643.2:c.11000G>A (AKAP9) XP_016867132.1:p.Arg3667Lys
XM_017011644.2:c.11039G>A (AKAP9) XP_016867133.1:p.Arg3680Lys
XM_017011645.2:c.10985G>A (AKAP9) XP_016867134.1:p.Arg3662Lys
XM_017011646.2:c.11000G>A (AKAP9) XP_016867135.1:p.Arg3667Lys
XM_017011647.2:c.10946G>A (AKAP9) XP_016867136.1:p.Arg3649Lys
XM_017011648.2:c.10943G>A (AKAP9) XP_016867137.1:p.Arg3648Lys
XM_017011649.2:c.10976G>A (AKAP9) XP_016867138.1:p.Arg3659Lys
XM_017011650.2:c.10904G>A (AKAP9) XP_016867139.1:p.Arg3635Lys
XM_017011651.2:c.10898G>A (AKAP9) XP_016867140.1:p.Arg3633Lys
XM_017011652.2:c.10850G>A (AKAP9) XP_016867141.1:p.Arg3617Lys
XM_017011653.2:c.10811G>A (AKAP9) XP_016867142.1:p.Arg3604Lys
XM_017011654.2:c.10763G>A (AKAP9) XP_016867143.1:p.Arg3588Lys
XM_017011655.2:c.10667G>A (AKAP9) XP_016867144.1:p.Arg3556Lys
XM_017011656.2:c.10667G>A (AKAP9) XP_016867145.1:p.Arg3556Lys
XM_017011657.2:c.6704G>A (AKAP9) XP_016867146.1:p.Arg2235Lys
XM_017011658.2:c.5588G>A (AKAP9) XP_016867147.1:p.Arg1863Lys
XM_017011659.2:c.5549G>A (AKAP9) XP_016867148.1:p.Arg1850Lys
XM_017011660.2:c.5549G>A (AKAP9) XP_016867149.1:p.Arg1850Lys
XM_024446631.1:c.10802G>A (AKAP9) XP_024302399.1:p.Arg3601Lys