Canonical Allele Identifier: CA4337666
Community Standard Title: NM_005751.5(AKAP9):c.9137G>A (p.Arg3046Gln)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92086340G>A , CM000669.2:g.92086340G>A GRCh38
NC_000007.13:g.91715654G>A , CM000669.1:g.91715654G>A GRCh37
NC_000007.12:g.91553590G>A NCBI36
NG_011623.1:g.150466G>A , LRG_331:g.150466G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9137G>A (AKAP9) MANE Select NP_005742.4:p.Arg3046Gln
ENST00000356239.8:c.9137G>A (AKAP9) MANE Select ENSP00000348573.3:p.Arg3046Gln
NM_001379277.1:c.3782G>A (AKAP9) NP_001366206.1:p.Arg1261Gln
NM_005751.4:c.9137G>A , LRG_331t1:c.9137G>A (AKAP9) NP_005742.4:p.Arg3046Gln
NM_147185.2:c.9113G>A (AKAP9) NP_671714.1:p.Arg3038Gln
NM_147185.3:c.9113G>A (AKAP9) NP_671714.1:p.Arg3038Gln
ENST00000356239.7:c.9137G>A (AKAP9) ENSP00000348573.3:p.Arg3046Gln
ENST00000358100.6:c.8996G>A (AKAP9) ENSP00000350813.3:p.Arg2999Gln
ENST00000359028.6:c.9146G>A (AKAP9) ENSP00000351922.3:p.Arg3049Gln
ENST00000359028.7:c.9209G>A (AKAP9) ENSP00000351922.4:p.Arg3070Gln
ENST00000394534.6:c.2675G>A (AKAP9) ENSP00000378042.2:p.Arg892Gln
ENST00000394534.7:c.2630G>A (AKAP9) ENSP00000378042.3:p.Arg877Gln
ENST00000435423.1:c.571G>A (AKAP9)
ENST00000435423.2:n.977G>A (AKAP9)
ENST00000491695.2:c.3782G>A (AKAP9) ENSP00000494626.2:p.Arg1261Gln
ENST00000679448.1:c.9113G>A (AKAP9) ENSP00000505889.1:p.Arg3038Gln
ENST00000679457.1:c.9113G>A (AKAP9) ENSP00000505450.1:p.Arg3038Gln
ENST00000679474.1:n.9335G>A (AKAP9)
ENST00000679521.1:c.9083G>A (AKAP9) ENSP00000505456.1:p.Arg3028Gln
ENST00000679821.1:c.8879G>A (AKAP9) ENSP00000506040.1:p.Arg2960Gln
ENST00000680047.1:n.9335G>A (AKAP9)
ENST00000680072.1:c.8960G>A (AKAP9) ENSP00000506581.1:p.Arg2987Gln
ENST00000680181.1:c.9044G>A (AKAP9) ENSP00000505548.1:p.Arg3015Gln
ENST00000680365.1:c.2630G>A (AKAP9) ENSP00000506019.1:p.Arg877Gln
ENST00000680513.1:c.8996G>A (AKAP9) ENSP00000505284.1:p.Arg2999Gln
ENST00000680534.1:c.9176G>A (AKAP9) ENSP00000506674.1:p.Arg3059Gln
ENST00000680766.1:c.9113G>A (AKAP9) ENSP00000505204.1:p.Arg3038Gln
ENST00000680952.1:c.9113G>A (AKAP9) ENSP00000506407.1:p.Arg3038Gln
ENST00000681216.1:c.2474G>A (AKAP9) ENSP00000505551.1:p.Arg825Gln
ENST00000681412.1:c.9137G>A (AKAP9) ENSP00000506486.1:p.Arg3046Gln
ENST00000681722.1:c.9113G>A (AKAP9) ENSP00000506566.1:p.Arg3038Gln
ENST00000691309.1:c.1352-738C>T (CYP51A1) ENSP00000510368.1:n.1352-738C>T
XM_006715827.1:c.8996G>A (AKAP9) XP_006715890.1:p.Arg2999Gln
XM_011515709.1:c.9284G>A (AKAP9) XP_011514011.1:p.Arg3095Gln
XM_011515710.1:c.9308G>A (AKAP9) XP_011514012.1:p.Arg3103Gln
XM_011515711.1:c.9248G>A (AKAP9) XP_011514013.1:p.Arg3083Gln
XM_011515712.1:c.9245G>A (AKAP9) XP_011514014.1:p.Arg3082Gln
XM_011515713.1:c.9230G>A (AKAP9) XP_011514015.1:p.Arg3077Gln
XM_011515714.1:c.9269G>A (AKAP9) XP_011514016.1:p.Arg3090Gln
XM_011515716.1:c.9188G>A (AKAP9) XP_011514018.1:p.Arg3063Gln
XM_011515717.1:c.9143G>A (AKAP9) XP_011514019.1:p.Arg3048Gln
XM_011515718.1:c.9173G>A (AKAP9) XP_011514020.1:p.Arg3058Gln
XM_011515719.1:c.9149G>A (AKAP9) XP_011514021.1:p.Arg3050Gln
XM_011515720.1:c.9032G>A (AKAP9) XP_011514022.1:p.Arg3011Gln
XM_011515721.1:c.3797G>A (AKAP9) XP_011514023.1:p.Arg1266Gln
XM_011515722.1:c.3758G>A (AKAP9) XP_011514024.1:p.Arg1253Gln
XM_017011642.2:c.9272G>A (AKAP9) XP_016867131.1:p.Arg3091Gln
XM_017011643.2:c.9233G>A (AKAP9) XP_016867132.1:p.Arg3078Gln
XM_017011644.2:c.9272G>A (AKAP9) XP_016867133.1:p.Arg3091Gln
XM_017011645.2:c.9218G>A (AKAP9) XP_016867134.1:p.Arg3073Gln
XM_017011646.2:c.9233G>A (AKAP9) XP_016867135.1:p.Arg3078Gln
XM_017011647.2:c.9179G>A (AKAP9) XP_016867136.1:p.Arg3060Gln
XM_017011648.2:c.9176G>A (AKAP9) XP_016867137.1:p.Arg3059Gln
XM_017011649.2:c.9209G>A (AKAP9) XP_016867138.1:p.Arg3070Gln
XM_017011650.2:c.9137G>A (AKAP9) XP_016867139.1:p.Arg3046Gln
XM_017011651.2:c.9131G>A (AKAP9) XP_016867140.1:p.Arg3044Gln
XM_017011652.2:c.9159+654G>A (AKAP9) XP_016867141.1:n.9159+654G>A
XM_017011653.2:c.9044G>A (AKAP9) XP_016867142.1:p.Arg3015Gln
XM_017011654.2:c.8996G>A (AKAP9) XP_016867143.1:p.Arg2999Gln
XM_017011655.2:c.8900G>A (AKAP9) XP_016867144.1:p.Arg2967Gln
XM_017011656.2:c.8900G>A (AKAP9) XP_016867145.1:p.Arg2967Gln
XM_017011657.2:c.4937G>A (AKAP9) XP_016867146.1:p.Arg1646Gln
XM_017011658.2:c.3821G>A (AKAP9) XP_016867147.1:p.Arg1274Gln
XM_017011659.2:c.3782G>A (AKAP9) XP_016867148.1:p.Arg1261Gln
XM_017011660.2:c.3782G>A (AKAP9) XP_016867149.1:p.Arg1261Gln
XM_024446631.1:c.9035G>A (AKAP9) XP_024302399.1:p.Arg3012Gln