Canonical Allele Identifier: CA4337822
Community Standard Title: NM_005751.5(AKAP9):c.9698G>A (p.Arg3233His)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92095142G>A , CM000669.2:g.92095142G>A GRCh38
NC_000007.13:g.91724456G>A , CM000669.1:g.91724456G>A GRCh37
NC_000007.12:g.91562392G>A NCBI36
NG_011623.1:g.159268G>A , LRG_331:g.159268G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9698G>A (AKAP9) MANE Select NP_005742.4:p.Arg3233His
ENST00000356239.8:c.9698G>A (AKAP9) MANE Select ENSP00000348573.3:p.Arg3233His
NM_001379277.1:c.4343G>A (AKAP9) NP_001366206.1:p.Arg1448His
NM_005751.4:c.9698G>A , LRG_331t1:c.9698G>A (AKAP9) NP_005742.4:p.Arg3233His
NM_147185.2:c.9674G>A (AKAP9) NP_671714.1:p.Arg3225His
NM_147185.3:c.9674G>A (AKAP9) NP_671714.1:p.Arg3225His
ENST00000356239.7:c.9698G>A (AKAP9) ENSP00000348573.3:p.Arg3233His
ENST00000359028.6:c.9707G>A (AKAP9) ENSP00000351922.3:p.Arg3236His
ENST00000359028.7:c.9770G>A (AKAP9) ENSP00000351922.4:p.Arg3257His
ENST00000394534.6:c.3236G>A (AKAP9) ENSP00000378042.2:p.Arg1079His
ENST00000394534.7:c.3191G>A (AKAP9) ENSP00000378042.3:p.Arg1064His
ENST00000487258.5:n.1448G>A (AKAP9)
ENST00000487692.2:n.1776G>A (AKAP9)
ENST00000491695.2:c.4343G>A (AKAP9) ENSP00000494626.2:p.Arg1448His
ENST00000679448.1:c.*578G>A (AKAP9) ENSP00000505889.1:n.*578G>A
ENST00000679457.1:c.9674G>A (AKAP9) ENSP00000505450.1:p.Arg3225His
ENST00000679474.1:n.9896G>A (AKAP9)
ENST00000679521.1:c.9644G>A (AKAP9) ENSP00000505456.1:p.Arg3215His
ENST00000679821.1:c.9440G>A (AKAP9) ENSP00000506040.1:p.Arg3147His
ENST00000680047.1:n.9896G>A (AKAP9)
ENST00000680072.1:c.9521G>A (AKAP9) ENSP00000506581.1:p.Arg3174His
ENST00000680181.1:c.9605G>A (AKAP9) ENSP00000505548.1:p.Arg3202His
ENST00000680365.1:c.3191G>A (AKAP9) ENSP00000506019.1:p.Arg1064His
ENST00000680513.1:c.9557G>A (AKAP9) ENSP00000505284.1:p.Arg3186His
ENST00000680534.1:c.9737G>A (AKAP9) ENSP00000506674.1:p.Arg3246His
ENST00000680766.1:c.9674G>A (AKAP9) ENSP00000505204.1:p.Arg3225His
ENST00000680952.1:c.9674G>A (AKAP9) ENSP00000506407.1:p.Arg3225His
ENST00000681216.1:c.3458G>A (AKAP9) ENSP00000505551.1:n.3458G>A
ENST00000681412.1:c.9698G>A (AKAP9) ENSP00000506486.1:p.Arg3233His
ENST00000681722.1:c.9674G>A (AKAP9) ENSP00000506566.1:p.Arg3225His
ENST00000691309.1:c.1352-9540C>T (CYP51A1) ENSP00000510368.1:n.1352-9540C>T
XM_006715827.1:c.9557G>A (AKAP9) XP_006715890.1:p.Arg3186His
XM_011515709.1:c.9845G>A (AKAP9) XP_011514011.1:p.Arg3282His
XM_011515710.1:c.9869G>A (AKAP9) XP_011514012.1:p.Arg3290His
XM_011515711.1:c.9809G>A (AKAP9) XP_011514013.1:p.Arg3270His
XM_011515712.1:c.9806G>A (AKAP9) XP_011514014.1:p.Arg3269His
XM_011515713.1:c.9791G>A (AKAP9) XP_011514015.1:p.Arg3264His
XM_011515714.1:c.9830G>A (AKAP9) XP_011514016.1:p.Arg3277His
XM_011515716.1:c.9749G>A (AKAP9) XP_011514018.1:p.Arg3250His
XM_011515717.1:c.9704G>A (AKAP9) XP_011514019.1:p.Arg3235His
XM_011515718.1:c.9734G>A (AKAP9) XP_011514020.1:p.Arg3245His
XM_011515719.1:c.9710G>A (AKAP9) XP_011514021.1:p.Arg3237His
XM_011515721.1:c.4358G>A (AKAP9) XP_011514023.1:p.Arg1453His
XM_011515722.1:c.4319G>A (AKAP9) XP_011514024.1:p.Arg1440His
XM_017011642.2:c.9833G>A (AKAP9) XP_016867131.1:p.Arg3278His
XM_017011643.2:c.9794G>A (AKAP9) XP_016867132.1:p.Arg3265His
XM_017011644.2:c.9833G>A (AKAP9) XP_016867133.1:p.Arg3278His
XM_017011645.2:c.9779G>A (AKAP9) XP_016867134.1:p.Arg3260His
XM_017011646.2:c.9794G>A (AKAP9) XP_016867135.1:p.Arg3265His
XM_017011647.2:c.9740G>A (AKAP9) XP_016867136.1:p.Arg3247His
XM_017011648.2:c.9737G>A (AKAP9) XP_016867137.1:p.Arg3246His
XM_017011649.2:c.9770G>A (AKAP9) XP_016867138.1:p.Arg3257His
XM_017011650.2:c.9698G>A (AKAP9) XP_016867139.1:p.Arg3233His
XM_017011651.2:c.9692G>A (AKAP9) XP_016867140.1:p.Arg3231His
XM_017011652.2:c.9644G>A (AKAP9) XP_016867141.1:p.Arg3215His
XM_017011653.2:c.9605G>A (AKAP9) XP_016867142.1:p.Arg3202His
XM_017011654.2:c.9557G>A (AKAP9) XP_016867143.1:p.Arg3186His
XM_017011655.2:c.9461G>A (AKAP9) XP_016867144.1:p.Arg3154His
XM_017011656.2:c.9461G>A (AKAP9) XP_016867145.1:p.Arg3154His
XM_017011657.2:c.5498G>A (AKAP9) XP_016867146.1:p.Arg1833His
XM_017011658.2:c.4382G>A (AKAP9) XP_016867147.1:p.Arg1461His
XM_017011659.2:c.4343G>A (AKAP9) XP_016867148.1:p.Arg1448His
XM_017011660.2:c.4343G>A (AKAP9) XP_016867149.1:p.Arg1448His
XM_024446631.1:c.9596G>A (AKAP9) XP_024302399.1:p.Arg3199His