Canonical Allele Identifier: CA368162423
Community Standard Title: NM_005751.5(AKAP9):c.11213C>T (p.Ala3738Val)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92102709C>T , CM000669.2:g.92102709C>T GRCh38
NC_000007.13:g.91732023C>T , CM000669.1:g.91732023C>T GRCh37
NC_000007.12:g.91569959C>T NCBI36
NG_011623.1:g.166835C>T , LRG_331:g.166835C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.11213C>T (AKAP9) MANE Select NP_005742.4:p.Ala3738Val
ENST00000356239.8:c.11213C>T (AKAP9) MANE Select ENSP00000348573.3:p.Ala3738Val
NM_001379277.1:c.5858C>T (AKAP9) NP_001366206.1:p.Ala1953Val
NM_005751.4:c.11213C>T , LRG_331t1:c.11213C>T (AKAP9) NP_005742.4:p.Ala3738Val
NM_147185.2:c.11189C>T (AKAP9) NP_671714.1:p.Ala3730Val
NM_147185.3:c.11189C>T (AKAP9) NP_671714.1:p.Ala3730Val
ENST00000356239.7:c.11213C>T (AKAP9) ENSP00000348573.3:p.Ala3738Val
ENST00000359028.6:c.11222C>T (AKAP9) ENSP00000351922.3:p.Ala3741Val
ENST00000359028.7:c.11285C>T (AKAP9) ENSP00000351922.4:p.Ala3762Val
ENST00000394534.6:c.4751C>T (AKAP9) ENSP00000378042.2:p.Ala1584Val
ENST00000394534.7:c.4205C>T (AKAP9) ENSP00000378042.3:p.Ala1402Val
ENST00000463118.1:n.468C>T (AKAP9)
ENST00000463118.2:n.468C>T (AKAP9)
ENST00000486313.1:n.121C>T (AKAP9)
ENST00000486313.2:c.701C>T (AKAP9) ENSP00000505389.1:p.Ala234Val
ENST00000487258.5:n.2963C>T (AKAP9)
ENST00000487692.2:n.3175+1653C>T (AKAP9)
ENST00000491695.2:c.5858C>T (AKAP9) ENSP00000494626.2:p.Ala1953Val
ENST00000679448.1:c.*2093C>T (AKAP9) ENSP00000505889.1:n.*2093C>T
ENST00000679457.1:c.11189C>T (AKAP9) ENSP00000505450.1:p.Ala3730Val
ENST00000679474.1:n.12397C>T (AKAP9)
ENST00000679521.1:c.11159C>T (AKAP9) ENSP00000505456.1:p.Ala3720Val
ENST00000679821.1:c.10955C>T (AKAP9) ENSP00000506040.1:p.Ala3652Val
ENST00000680047.1:n.12883C>T (AKAP9)
ENST00000680072.1:c.11036C>T (AKAP9) ENSP00000506581.1:p.Ala3679Val
ENST00000680181.1:c.11120C>T (AKAP9) ENSP00000505548.1:p.Ala3707Val
ENST00000680365.1:c.4852C>T (AKAP9) ENSP00000506019.1:n.4852C>T
ENST00000680513.1:c.11072C>T (AKAP9) ENSP00000505284.1:p.Ala3691Val
ENST00000680534.1:c.11252C>T (AKAP9) ENSP00000506674.1:p.Ala3751Val
ENST00000680766.1:c.11189C>T (AKAP9) ENSP00000505204.1:p.Ala3730Val
ENST00000680952.1:c.11189C>T (AKAP9) ENSP00000506407.1:p.Ala3730Val
ENST00000681216.1:c.4973C>T (AKAP9) ENSP00000505551.1:n.4973C>T
ENST00000681412.1:c.11213C>T (AKAP9) ENSP00000506486.1:p.Ala3738Val
ENST00000681722.1:c.11189C>T (AKAP9) ENSP00000506566.1:p.Ala3730Val
ENST00000691309.1:c.1351+14335G>A (CYP51A1) ENSP00000510368.1:n.1351+14335G>A
XM_006715827.1:c.11072C>T (AKAP9) XP_006715890.1:p.Ala3691Val
XM_011515709.1:c.11360C>T (AKAP9) XP_011514011.1:p.Ala3787Val
XM_011515710.1:c.11384C>T (AKAP9) XP_011514012.1:p.Ala3795Val
XM_011515711.1:c.11324C>T (AKAP9) XP_011514013.1:p.Ala3775Val
XM_011515712.1:c.11321C>T (AKAP9) XP_011514014.1:p.Ala3774Val
XM_011515713.1:c.11306C>T (AKAP9) XP_011514015.1:p.Ala3769Val
XM_011515714.1:c.11345C>T (AKAP9) XP_011514016.1:p.Ala3782Val
XM_011515716.1:c.11264C>T (AKAP9) XP_011514018.1:p.Ala3755Val
XM_011515717.1:c.11219C>T (AKAP9) XP_011514019.1:p.Ala3740Val
XM_011515718.1:c.11249C>T (AKAP9) XP_011514020.1:p.Ala3750Val
XM_011515719.1:c.11225C>T (AKAP9) XP_011514021.1:p.Ala3742Val
XM_011515721.1:c.5873C>T (AKAP9) XP_011514023.1:p.Ala1958Val
XM_011515722.1:c.5834C>T (AKAP9) XP_011514024.1:p.Ala1945Val
XM_017011642.2:c.11348C>T (AKAP9) XP_016867131.1:p.Ala3783Val
XM_017011643.2:c.11309C>T (AKAP9) XP_016867132.1:p.Ala3770Val
XM_017011644.2:c.11348C>T (AKAP9) XP_016867133.1:p.Ala3783Val
XM_017011645.2:c.11294C>T (AKAP9) XP_016867134.1:p.Ala3765Val
XM_017011646.2:c.11309C>T (AKAP9) XP_016867135.1:p.Ala3770Val
XM_017011647.2:c.11255C>T (AKAP9) XP_016867136.1:p.Ala3752Val
XM_017011648.2:c.11252C>T (AKAP9) XP_016867137.1:p.Ala3751Val
XM_017011649.2:c.11285C>T (AKAP9) XP_016867138.1:p.Ala3762Val
XM_017011650.2:c.11213C>T (AKAP9) XP_016867139.1:p.Ala3738Val
XM_017011651.2:c.11207C>T (AKAP9) XP_016867140.1:p.Ala3736Val
XM_017011652.2:c.11159C>T (AKAP9) XP_016867141.1:p.Ala3720Val
XM_017011653.2:c.11120C>T (AKAP9) XP_016867142.1:p.Ala3707Val
XM_017011654.2:c.11072C>T (AKAP9) XP_016867143.1:p.Ala3691Val
XM_017011655.2:c.10976C>T (AKAP9) XP_016867144.1:p.Ala3659Val
XM_017011656.2:c.10976C>T (AKAP9) XP_016867145.1:p.Ala3659Val
XM_017011657.2:c.7013C>T (AKAP9) XP_016867146.1:p.Ala2338Val
XM_017011658.2:c.5897C>T (AKAP9) XP_016867147.1:p.Ala1966Val
XM_017011659.2:c.5858C>T (AKAP9) XP_016867148.1:p.Ala1953Val
XM_017011660.2:c.5858C>T (AKAP9) XP_016867149.1:p.Ala1953Val
XM_024446631.1:c.11111C>T (AKAP9) XP_024302399.1:p.Ala3704Val