Canonical Allele Identifier: CA4337694
Community Standard Title: NM_005751.5(AKAP9):c.9229G>A (p.Ala3077Thr)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92089400G>A , CM000669.2:g.92089400G>A GRCh38
NC_000007.13:g.91718714G>A , CM000669.1:g.91718714G>A GRCh37
NC_000007.12:g.91556650G>A NCBI36
NG_011623.1:g.153526G>A , LRG_331:g.153526G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9229G>A (AKAP9) MANE Select NP_005742.4:p.Ala3077Thr
ENST00000356239.8:c.9229G>A (AKAP9) MANE Select ENSP00000348573.3:p.Ala3077Thr
NM_001379277.1:c.3874G>A (AKAP9) NP_001366206.1:p.Ala1292Thr
NM_005751.4:c.9229G>A , LRG_331t1:c.9229G>A (AKAP9) NP_005742.4:p.Ala3077Thr
NM_147185.2:c.9205G>A (AKAP9) NP_671714.1:p.Ala3069Thr
NM_147185.3:c.9205G>A (AKAP9) NP_671714.1:p.Ala3069Thr
ENST00000356239.7:c.9229G>A (AKAP9) ENSP00000348573.3:p.Ala3077Thr
ENST00000358100.6:c.9088G>A (AKAP9) ENSP00000350813.3:p.Ala3030Thr
ENST00000359028.6:c.9238G>A (AKAP9) ENSP00000351922.3:p.Ala3080Thr
ENST00000359028.7:c.9301G>A (AKAP9) ENSP00000351922.4:p.Ala3101Thr
ENST00000394534.6:c.2767G>A (AKAP9) ENSP00000378042.2:p.Ala923Thr
ENST00000394534.7:c.2722G>A (AKAP9) ENSP00000378042.3:p.Ala908Thr
ENST00000435423.1:c.663G>A (AKAP9)
ENST00000435423.2:n.1069G>A (AKAP9)
ENST00000491695.2:c.3874G>A (AKAP9) ENSP00000494626.2:p.Ala1292Thr
ENST00000679448.1:c.9205G>A (AKAP9) ENSP00000505889.1:p.Ala3069Thr
ENST00000679457.1:c.9205G>A (AKAP9) ENSP00000505450.1:p.Ala3069Thr
ENST00000679474.1:n.9427G>A (AKAP9)
ENST00000679521.1:c.9175G>A (AKAP9) ENSP00000505456.1:p.Ala3059Thr
ENST00000679821.1:c.8971G>A (AKAP9) ENSP00000506040.1:p.Ala2991Thr
ENST00000680047.1:n.9427G>A (AKAP9)
ENST00000680072.1:c.9052G>A (AKAP9) ENSP00000506581.1:p.Ala3018Thr
ENST00000680181.1:c.9136G>A (AKAP9) ENSP00000505548.1:p.Ala3046Thr
ENST00000680365.1:c.2722G>A (AKAP9) ENSP00000506019.1:p.Ala908Thr
ENST00000680513.1:c.9088G>A (AKAP9) ENSP00000505284.1:p.Ala3030Thr
ENST00000680534.1:c.9268G>A (AKAP9) ENSP00000506674.1:p.Ala3090Thr
ENST00000680766.1:c.9205G>A (AKAP9) ENSP00000505204.1:p.Ala3069Thr
ENST00000680952.1:c.9205G>A (AKAP9) ENSP00000506407.1:p.Ala3069Thr
ENST00000681216.1:c.2566G>A (AKAP9) ENSP00000505551.1:p.Ala856Thr
ENST00000681412.1:c.9229G>A (AKAP9) ENSP00000506486.1:p.Ala3077Thr
ENST00000681722.1:c.9205G>A (AKAP9) ENSP00000506566.1:p.Ala3069Thr
ENST00000691309.1:c.1352-3798C>T (CYP51A1) ENSP00000510368.1:n.1352-3798C>T
XM_006715827.1:c.9088G>A (AKAP9) XP_006715890.1:p.Ala3030Thr
XM_011515709.1:c.9376G>A (AKAP9) XP_011514011.1:p.Ala3126Thr
XM_011515710.1:c.9400G>A (AKAP9) XP_011514012.1:p.Ala3134Thr
XM_011515711.1:c.9340G>A (AKAP9) XP_011514013.1:p.Ala3114Thr
XM_011515712.1:c.9337G>A (AKAP9) XP_011514014.1:p.Ala3113Thr
XM_011515713.1:c.9322G>A (AKAP9) XP_011514015.1:p.Ala3108Thr
XM_011515714.1:c.9361G>A (AKAP9) XP_011514016.1:p.Ala3121Thr
XM_011515716.1:c.9280G>A (AKAP9) XP_011514018.1:p.Ala3094Thr
XM_011515717.1:c.9235G>A (AKAP9) XP_011514019.1:p.Ala3079Thr
XM_011515718.1:c.9265G>A (AKAP9) XP_011514020.1:p.Ala3089Thr
XM_011515719.1:c.9241G>A (AKAP9) XP_011514021.1:p.Ala3081Thr
XM_011515720.1:c.9124G>A (AKAP9) XP_011514022.1:p.Ala3042Thr
XM_011515721.1:c.3889G>A (AKAP9) XP_011514023.1:p.Ala1297Thr
XM_011515722.1:c.3850G>A (AKAP9) XP_011514024.1:p.Ala1284Thr
XM_017011642.2:c.9364G>A (AKAP9) XP_016867131.1:p.Ala3122Thr
XM_017011643.2:c.9325G>A (AKAP9) XP_016867132.1:p.Ala3109Thr
XM_017011644.2:c.9364G>A (AKAP9) XP_016867133.1:p.Ala3122Thr
XM_017011645.2:c.9310G>A (AKAP9) XP_016867134.1:p.Ala3104Thr
XM_017011646.2:c.9325G>A (AKAP9) XP_016867135.1:p.Ala3109Thr
XM_017011647.2:c.9271G>A (AKAP9) XP_016867136.1:p.Ala3091Thr
XM_017011648.2:c.9268G>A (AKAP9) XP_016867137.1:p.Ala3090Thr
XM_017011649.2:c.9301G>A (AKAP9) XP_016867138.1:p.Ala3101Thr
XM_017011650.2:c.9229G>A (AKAP9) XP_016867139.1:p.Ala3077Thr
XM_017011651.2:c.9223G>A (AKAP9) XP_016867140.1:p.Ala3075Thr
XM_017011652.2:c.9175G>A (AKAP9) XP_016867141.1:p.Ala3059Thr
XM_017011653.2:c.9136G>A (AKAP9) XP_016867142.1:p.Ala3046Thr
XM_017011654.2:c.9088G>A (AKAP9) XP_016867143.1:p.Ala3030Thr
XM_017011655.2:c.8992G>A (AKAP9) XP_016867144.1:p.Ala2998Thr
XM_017011656.2:c.8992G>A (AKAP9) XP_016867145.1:p.Ala2998Thr
XM_017011657.2:c.5029G>A (AKAP9) XP_016867146.1:p.Ala1677Thr
XM_017011658.2:c.3913G>A (AKAP9) XP_016867147.1:p.Ala1305Thr
XM_017011659.2:c.3874G>A (AKAP9) XP_016867148.1:p.Ala1292Thr
XM_017011660.2:c.3874G>A (AKAP9) XP_016867149.1:p.Ala1292Thr
XM_024446631.1:c.9127G>A (AKAP9) XP_024302399.1:p.Ala3043Thr