Canonical Allele Identifier: CA4338148
Community Standard Title: NM_005751.5(AKAP9):c.11317A>G (p.Ile3773Val)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92102813A>G , CM000669.2:g.92102813A>G GRCh38
NC_000007.13:g.91732127A>G , CM000669.1:g.91732127A>G GRCh37
NC_000007.12:g.91570063A>G NCBI36
NG_011623.1:g.166939A>G , LRG_331:g.166939A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.11317A>G (AKAP9) MANE Select NP_005742.4:p.Ile3773Val
ENST00000356239.8:c.11317A>G (AKAP9) MANE Select ENSP00000348573.3:p.Ile3773Val
NM_001379277.1:c.5962A>G (AKAP9) NP_001366206.1:p.Ile1988Val
NM_005751.4:c.11317A>G , LRG_331t1:c.11317A>G (AKAP9) NP_005742.4:p.Ile3773Val
NM_147185.2:c.11293A>G (AKAP9) NP_671714.1:p.Ile3765Val
NM_147185.3:c.11293A>G (AKAP9) NP_671714.1:p.Ile3765Val
ENST00000356239.7:c.11317A>G (AKAP9) ENSP00000348573.3:p.Ile3773Val
ENST00000359028.6:c.11326A>G (AKAP9) ENSP00000351922.3:p.Ile3776Val
ENST00000359028.7:c.11389A>G (AKAP9) ENSP00000351922.4:p.Ile3797Val
ENST00000394534.6:c.4855A>G (AKAP9) ENSP00000378042.2:p.Ile1619Val
ENST00000394534.7:c.4309A>G (AKAP9) ENSP00000378042.3:p.Ile1437Val
ENST00000463118.1:n.572A>G (AKAP9)
ENST00000463118.2:n.572A>G (AKAP9)
ENST00000486313.1:n.225A>G (AKAP9)
ENST00000486313.2:c.805A>G (AKAP9) ENSP00000505389.1:p.Ile269Val
ENST00000487258.5:n.3067A>G (AKAP9)
ENST00000487692.2:n.3175+1757A>G (AKAP9)
ENST00000491695.2:c.5962A>G (AKAP9) ENSP00000494626.2:p.Ile1988Val
ENST00000679448.1:c.*2197A>G (AKAP9) ENSP00000505889.1:n.*2197A>G
ENST00000679457.1:c.11293A>G (AKAP9) ENSP00000505450.1:p.Ile3765Val
ENST00000679474.1:n.12501A>G (AKAP9)
ENST00000679521.1:c.11263A>G (AKAP9) ENSP00000505456.1:p.Ile3755Val
ENST00000679821.1:c.11059A>G (AKAP9) ENSP00000506040.1:p.Ile3687Val
ENST00000680047.1:n.12987A>G (AKAP9)
ENST00000680072.1:c.11140A>G (AKAP9) ENSP00000506581.1:p.Ile3714Val
ENST00000680181.1:c.11224A>G (AKAP9) ENSP00000505548.1:p.Ile3742Val
ENST00000680365.1:c.4956A>G (AKAP9) ENSP00000506019.1:n.4956A>G
ENST00000680513.1:c.11176A>G (AKAP9) ENSP00000505284.1:p.Ile3726Val
ENST00000680534.1:c.11356A>G (AKAP9) ENSP00000506674.1:p.Ile3786Val
ENST00000680766.1:c.11293A>G (AKAP9) ENSP00000505204.1:p.Ile3765Val
ENST00000680952.1:c.11293A>G (AKAP9) ENSP00000506407.1:p.Ile3765Val
ENST00000681216.1:c.5077A>G (AKAP9) ENSP00000505551.1:n.5077A>G
ENST00000681412.1:c.11317A>G (AKAP9) ENSP00000506486.1:p.Ile3773Val
ENST00000681722.1:c.11293A>G (AKAP9) ENSP00000506566.1:p.Ile3765Val
ENST00000691309.1:c.1351+14231T>C (CYP51A1) ENSP00000510368.1:n.1351+14231T>C
XM_006715827.1:c.11176A>G (AKAP9) XP_006715890.1:p.Ile3726Val
XM_011515709.1:c.11464A>G (AKAP9) XP_011514011.1:p.Ile3822Val
XM_011515710.1:c.11488A>G (AKAP9) XP_011514012.1:p.Ile3830Val
XM_011515711.1:c.11428A>G (AKAP9) XP_011514013.1:p.Ile3810Val
XM_011515712.1:c.11425A>G (AKAP9) XP_011514014.1:p.Ile3809Val
XM_011515713.1:c.11410A>G (AKAP9) XP_011514015.1:p.Ile3804Val
XM_011515714.1:c.11449A>G (AKAP9) XP_011514016.1:p.Ile3817Val
XM_011515716.1:c.11368A>G (AKAP9) XP_011514018.1:p.Ile3790Val
XM_011515717.1:c.11323A>G (AKAP9) XP_011514019.1:p.Ile3775Val
XM_011515718.1:c.11353A>G (AKAP9) XP_011514020.1:p.Ile3785Val
XM_011515719.1:c.11329A>G (AKAP9) XP_011514021.1:p.Ile3777Val
XM_011515721.1:c.5977A>G (AKAP9) XP_011514023.1:p.Ile1993Val
XM_011515722.1:c.5938A>G (AKAP9) XP_011514024.1:p.Ile1980Val
XM_017011642.2:c.11452A>G (AKAP9) XP_016867131.1:p.Ile3818Val
XM_017011643.2:c.11413A>G (AKAP9) XP_016867132.1:p.Ile3805Val
XM_017011644.2:c.11452A>G (AKAP9) XP_016867133.1:p.Ile3818Val
XM_017011645.2:c.11398A>G (AKAP9) XP_016867134.1:p.Ile3800Val
XM_017011646.2:c.11413A>G (AKAP9) XP_016867135.1:p.Ile3805Val
XM_017011647.2:c.11359A>G (AKAP9) XP_016867136.1:p.Ile3787Val
XM_017011648.2:c.11356A>G (AKAP9) XP_016867137.1:p.Ile3786Val
XM_017011649.2:c.11389A>G (AKAP9) XP_016867138.1:p.Ile3797Val
XM_017011650.2:c.11317A>G (AKAP9) XP_016867139.1:p.Ile3773Val
XM_017011651.2:c.11311A>G (AKAP9) XP_016867140.1:p.Ile3771Val
XM_017011652.2:c.11263A>G (AKAP9) XP_016867141.1:p.Ile3755Val
XM_017011653.2:c.11224A>G (AKAP9) XP_016867142.1:p.Ile3742Val
XM_017011654.2:c.11176A>G (AKAP9) XP_016867143.1:p.Ile3726Val
XM_017011655.2:c.11080A>G (AKAP9) XP_016867144.1:p.Ile3694Val
XM_017011656.2:c.11080A>G (AKAP9) XP_016867145.1:p.Ile3694Val
XM_017011657.2:c.7117A>G (AKAP9) XP_016867146.1:p.Ile2373Val
XM_017011658.2:c.6001A>G (AKAP9) XP_016867147.1:p.Ile2001Val
XM_017011659.2:c.5962A>G (AKAP9) XP_016867148.1:p.Ile1988Val
XM_017011660.2:c.5962A>G (AKAP9) XP_016867149.1:p.Ile1988Val
XM_024446631.1:c.11215A>G (AKAP9) XP_024302399.1:p.Ile3739Val