Canonical Allele Identifier: CA161888844
Community Standard Title: NM_005751.5(AKAP9):c.9106G>A (p.Glu3036Lys)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92086309G>A , CM000669.2:g.92086309G>A GRCh38
NC_000007.13:g.91715623G>A , CM000669.1:g.91715623G>A GRCh37
NC_000007.12:g.91553559G>A NCBI36
NG_011623.1:g.150435G>A , LRG_331:g.150435G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9106G>A (AKAP9) MANE Select NP_005742.4:p.Glu3036Lys
ENST00000356239.8:c.9106G>A (AKAP9) MANE Select ENSP00000348573.3:p.Glu3036Lys
NM_001379277.1:c.3751G>A (AKAP9) NP_001366206.1:p.Glu1251Lys
NM_005751.4:c.9106G>A , LRG_331t1:c.9106G>A (AKAP9) NP_005742.4:p.Glu3036Lys
NM_147185.2:c.9082G>A (AKAP9) NP_671714.1:p.Glu3028Lys
NM_147185.3:c.9082G>A (AKAP9) NP_671714.1:p.Glu3028Lys
ENST00000356239.7:c.9106G>A (AKAP9) ENSP00000348573.3:p.Glu3036Lys
ENST00000358100.6:c.8965G>A (AKAP9) ENSP00000350813.3:p.Glu2989Lys
ENST00000359028.6:c.9115G>A (AKAP9) ENSP00000351922.3:p.Glu3039Lys
ENST00000359028.7:c.9178G>A (AKAP9) ENSP00000351922.4:p.Glu3060Lys
ENST00000394534.6:c.2644G>A (AKAP9) ENSP00000378042.2:p.Glu882Lys
ENST00000394534.7:c.2599G>A (AKAP9) ENSP00000378042.3:p.Glu867Lys
ENST00000435423.1:c.540G>A (AKAP9)
ENST00000435423.2:n.946G>A (AKAP9)
ENST00000491695.2:c.3751G>A (AKAP9) ENSP00000494626.2:p.Glu1251Lys
ENST00000679448.1:c.9082G>A (AKAP9) ENSP00000505889.1:p.Glu3028Lys
ENST00000679457.1:c.9082G>A (AKAP9) ENSP00000505450.1:p.Glu3028Lys
ENST00000679474.1:n.9304G>A (AKAP9)
ENST00000679521.1:c.9052G>A (AKAP9) ENSP00000505456.1:p.Glu3018Lys
ENST00000679821.1:c.8848G>A (AKAP9) ENSP00000506040.1:p.Glu2950Lys
ENST00000680047.1:n.9304G>A (AKAP9)
ENST00000680072.1:c.8929G>A (AKAP9) ENSP00000506581.1:p.Glu2977Lys
ENST00000680181.1:c.9013G>A (AKAP9) ENSP00000505548.1:p.Glu3005Lys
ENST00000680365.1:c.2599G>A (AKAP9) ENSP00000506019.1:p.Glu867Lys
ENST00000680513.1:c.8965G>A (AKAP9) ENSP00000505284.1:p.Glu2989Lys
ENST00000680534.1:c.9145G>A (AKAP9) ENSP00000506674.1:p.Glu3049Lys
ENST00000680766.1:c.9082G>A (AKAP9) ENSP00000505204.1:p.Glu3028Lys
ENST00000680952.1:c.9082G>A (AKAP9) ENSP00000506407.1:p.Glu3028Lys
ENST00000681216.1:c.2443G>A (AKAP9) ENSP00000505551.1:p.Glu815Lys
ENST00000681412.1:c.9106G>A (AKAP9) ENSP00000506486.1:p.Glu3036Lys
ENST00000681722.1:c.9082G>A (AKAP9) ENSP00000506566.1:p.Glu3028Lys
ENST00000691309.1:c.1352-707C>T (CYP51A1) ENSP00000510368.1:n.1352-707C>T
XM_006715827.1:c.8965G>A (AKAP9) XP_006715890.1:p.Glu2989Lys
XM_011515709.1:c.9253G>A (AKAP9) XP_011514011.1:p.Glu3085Lys
XM_011515710.1:c.9277G>A (AKAP9) XP_011514012.1:p.Glu3093Lys
XM_011515711.1:c.9217G>A (AKAP9) XP_011514013.1:p.Glu3073Lys
XM_011515712.1:c.9214G>A (AKAP9) XP_011514014.1:p.Glu3072Lys
XM_011515713.1:c.9199G>A (AKAP9) XP_011514015.1:p.Glu3067Lys
XM_011515714.1:c.9238G>A (AKAP9) XP_011514016.1:p.Glu3080Lys
XM_011515716.1:c.9157G>A (AKAP9) XP_011514018.1:p.Glu3053Lys
XM_011515717.1:c.9112G>A (AKAP9) XP_011514019.1:p.Glu3038Lys
XM_011515718.1:c.9142G>A (AKAP9) XP_011514020.1:p.Glu3048Lys
XM_011515719.1:c.9118G>A (AKAP9) XP_011514021.1:p.Glu3040Lys
XM_011515720.1:c.9001G>A (AKAP9) XP_011514022.1:p.Glu3001Lys
XM_011515721.1:c.3766G>A (AKAP9) XP_011514023.1:p.Glu1256Lys
XM_011515722.1:c.3727G>A (AKAP9) XP_011514024.1:p.Glu1243Lys
XM_017011642.2:c.9241G>A (AKAP9) XP_016867131.1:p.Glu3081Lys
XM_017011643.2:c.9202G>A (AKAP9) XP_016867132.1:p.Glu3068Lys
XM_017011644.2:c.9241G>A (AKAP9) XP_016867133.1:p.Glu3081Lys
XM_017011645.2:c.9187G>A (AKAP9) XP_016867134.1:p.Glu3063Lys
XM_017011646.2:c.9202G>A (AKAP9) XP_016867135.1:p.Glu3068Lys
XM_017011647.2:c.9148G>A (AKAP9) XP_016867136.1:p.Glu3050Lys
XM_017011648.2:c.9145G>A (AKAP9) XP_016867137.1:p.Glu3049Lys
XM_017011649.2:c.9178G>A (AKAP9) XP_016867138.1:p.Glu3060Lys
XM_017011650.2:c.9106G>A (AKAP9) XP_016867139.1:p.Glu3036Lys
XM_017011651.2:c.9100G>A (AKAP9) XP_016867140.1:p.Glu3034Lys
XM_017011652.2:c.9159+623G>A (AKAP9) XP_016867141.1:n.9159+623G>A
XM_017011653.2:c.9013G>A (AKAP9) XP_016867142.1:p.Glu3005Lys
XM_017011654.2:c.8965G>A (AKAP9) XP_016867143.1:p.Glu2989Lys
XM_017011655.2:c.8869G>A (AKAP9) XP_016867144.1:p.Glu2957Lys
XM_017011656.2:c.8869G>A (AKAP9) XP_016867145.1:p.Glu2957Lys
XM_017011657.2:c.4906G>A (AKAP9) XP_016867146.1:p.Glu1636Lys
XM_017011658.2:c.3790G>A (AKAP9) XP_016867147.1:p.Glu1264Lys
XM_017011659.2:c.3751G>A (AKAP9) XP_016867148.1:p.Glu1251Lys
XM_017011660.2:c.3751G>A (AKAP9) XP_016867149.1:p.Glu1251Lys
XM_024446631.1:c.9004G>A (AKAP9) XP_024302399.1:p.Glu3002Lys