Canonical Allele Identifier: CA354841
Community Standard Title: NM_005751.5(AKAP9):c.9112C>T (p.Arg3038Cys)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92086315C>T , CM000669.2:g.92086315C>T GRCh38
NC_000007.13:g.91715629C>T , CM000669.1:g.91715629C>T GRCh37
NC_000007.12:g.91553565C>T NCBI36
NG_011623.1:g.150441C>T , LRG_331:g.150441C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9112C>T (AKAP9) MANE Select NP_005742.4:p.Arg3038Cys
ENST00000356239.8:c.9112C>T (AKAP9) MANE Select ENSP00000348573.3:p.Arg3038Cys
NM_001379277.1:c.3757C>T (AKAP9) NP_001366206.1:p.Arg1253Cys
NM_005751.4:c.9112C>T , LRG_331t1:c.9112C>T (AKAP9) NP_005742.4:p.Arg3038Cys
NM_147185.2:c.9088C>T (AKAP9) NP_671714.1:p.Arg3030Cys
NM_147185.3:c.9088C>T (AKAP9) NP_671714.1:p.Arg3030Cys
ENST00000356239.7:c.9112C>T (AKAP9) ENSP00000348573.3:p.Arg3038Cys
ENST00000358100.6:c.8971C>T (AKAP9) ENSP00000350813.3:p.Arg2991Cys
ENST00000359028.6:c.9121C>T (AKAP9) ENSP00000351922.3:p.Arg3041Cys
ENST00000359028.7:c.9184C>T (AKAP9) ENSP00000351922.4:p.Arg3062Cys
ENST00000394534.6:c.2650C>T (AKAP9) ENSP00000378042.2:p.Arg884Cys
ENST00000394534.7:c.2605C>T (AKAP9) ENSP00000378042.3:p.Arg869Cys
ENST00000435423.1:c.546C>T (AKAP9)
ENST00000435423.2:n.952C>T (AKAP9)
ENST00000491695.2:c.3757C>T (AKAP9) ENSP00000494626.2:p.Arg1253Cys
ENST00000679448.1:c.9088C>T (AKAP9) ENSP00000505889.1:p.Arg3030Cys
ENST00000679457.1:c.9088C>T (AKAP9) ENSP00000505450.1:p.Arg3030Cys
ENST00000679474.1:n.9310C>T (AKAP9)
ENST00000679521.1:c.9058C>T (AKAP9) ENSP00000505456.1:p.Arg3020Cys
ENST00000679821.1:c.8854C>T (AKAP9) ENSP00000506040.1:p.Arg2952Cys
ENST00000680047.1:n.9310C>T (AKAP9)
ENST00000680072.1:c.8935C>T (AKAP9) ENSP00000506581.1:p.Arg2979Cys
ENST00000680181.1:c.9019C>T (AKAP9) ENSP00000505548.1:p.Arg3007Cys
ENST00000680365.1:c.2605C>T (AKAP9) ENSP00000506019.1:p.Arg869Cys
ENST00000680513.1:c.8971C>T (AKAP9) ENSP00000505284.1:p.Arg2991Cys
ENST00000680534.1:c.9151C>T (AKAP9) ENSP00000506674.1:p.Arg3051Cys
ENST00000680766.1:c.9088C>T (AKAP9) ENSP00000505204.1:p.Arg3030Cys
ENST00000680952.1:c.9088C>T (AKAP9) ENSP00000506407.1:p.Arg3030Cys
ENST00000681216.1:c.2449C>T (AKAP9) ENSP00000505551.1:p.Arg817Cys
ENST00000681412.1:c.9112C>T (AKAP9) ENSP00000506486.1:p.Arg3038Cys
ENST00000681722.1:c.9088C>T (AKAP9) ENSP00000506566.1:p.Arg3030Cys
ENST00000691309.1:c.1352-713G>A (CYP51A1) ENSP00000510368.1:n.1352-713G>A
XM_006715827.1:c.8971C>T (AKAP9) XP_006715890.1:p.Arg2991Cys
XM_011515709.1:c.9259C>T (AKAP9) XP_011514011.1:p.Arg3087Cys
XM_011515710.1:c.9283C>T (AKAP9) XP_011514012.1:p.Arg3095Cys
XM_011515711.1:c.9223C>T (AKAP9) XP_011514013.1:p.Arg3075Cys
XM_011515712.1:c.9220C>T (AKAP9) XP_011514014.1:p.Arg3074Cys
XM_011515713.1:c.9205C>T (AKAP9) XP_011514015.1:p.Arg3069Cys
XM_011515714.1:c.9244C>T (AKAP9) XP_011514016.1:p.Arg3082Cys
XM_011515716.1:c.9163C>T (AKAP9) XP_011514018.1:p.Arg3055Cys
XM_011515717.1:c.9118C>T (AKAP9) XP_011514019.1:p.Arg3040Cys
XM_011515718.1:c.9148C>T (AKAP9) XP_011514020.1:p.Arg3050Cys
XM_011515719.1:c.9124C>T (AKAP9) XP_011514021.1:p.Arg3042Cys
XM_011515720.1:c.9007C>T (AKAP9) XP_011514022.1:p.Arg3003Cys
XM_011515721.1:c.3772C>T (AKAP9) XP_011514023.1:p.Arg1258Cys
XM_011515722.1:c.3733C>T (AKAP9) XP_011514024.1:p.Arg1245Cys
XM_017011642.2:c.9247C>T (AKAP9) XP_016867131.1:p.Arg3083Cys
XM_017011643.2:c.9208C>T (AKAP9) XP_016867132.1:p.Arg3070Cys
XM_017011644.2:c.9247C>T (AKAP9) XP_016867133.1:p.Arg3083Cys
XM_017011645.2:c.9193C>T (AKAP9) XP_016867134.1:p.Arg3065Cys
XM_017011646.2:c.9208C>T (AKAP9) XP_016867135.1:p.Arg3070Cys
XM_017011647.2:c.9154C>T (AKAP9) XP_016867136.1:p.Arg3052Cys
XM_017011648.2:c.9151C>T (AKAP9) XP_016867137.1:p.Arg3051Cys
XM_017011649.2:c.9184C>T (AKAP9) XP_016867138.1:p.Arg3062Cys
XM_017011650.2:c.9112C>T (AKAP9) XP_016867139.1:p.Arg3038Cys
XM_017011651.2:c.9106C>T (AKAP9) XP_016867140.1:p.Arg3036Cys
XM_017011652.2:c.9159+629C>T (AKAP9) XP_016867141.1:n.9159+629C>T
XM_017011653.2:c.9019C>T (AKAP9) XP_016867142.1:p.Arg3007Cys
XM_017011654.2:c.8971C>T (AKAP9) XP_016867143.1:p.Arg2991Cys
XM_017011655.2:c.8875C>T (AKAP9) XP_016867144.1:p.Arg2959Cys
XM_017011656.2:c.8875C>T (AKAP9) XP_016867145.1:p.Arg2959Cys
XM_017011657.2:c.4912C>T (AKAP9) XP_016867146.1:p.Arg1638Cys
XM_017011658.2:c.3796C>T (AKAP9) XP_016867147.1:p.Arg1266Cys
XM_017011659.2:c.3757C>T (AKAP9) XP_016867148.1:p.Arg1253Cys
XM_017011660.2:c.3757C>T (AKAP9) XP_016867149.1:p.Arg1253Cys
XM_024446631.1:c.9010C>T (AKAP9) XP_024302399.1:p.Arg3004Cys