Canonical Allele Identifier: CA4337632
Community Standard Title: NM_005751.5(AKAP9):c.9022G>A (p.Glu3008Lys)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92085684G>A , CM000669.2:g.92085684G>A GRCh38
NC_000007.13:g.91714998G>A , CM000669.1:g.91714998G>A GRCh37
NC_000007.12:g.91552934G>A NCBI36
NG_011623.1:g.149810G>A , LRG_331:g.149810G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9022G>A (AKAP9) MANE Select NP_005742.4:p.Glu3008Lys
ENST00000356239.8:c.9022G>A (AKAP9) MANE Select ENSP00000348573.3:p.Glu3008Lys
NM_001379277.1:c.3667G>A (AKAP9) NP_001366206.1:p.Glu1223Lys
NM_005751.4:c.9022G>A , LRG_331t1:c.9022G>A (AKAP9) NP_005742.4:p.Glu3008Lys
NM_147185.2:c.8998G>A (AKAP9) NP_671714.1:p.Glu3000Lys
NM_147185.3:c.8998G>A (AKAP9) NP_671714.1:p.Glu3000Lys
ENST00000356239.7:c.9022G>A (AKAP9) ENSP00000348573.3:p.Glu3008Lys
ENST00000358100.6:c.8881G>A (AKAP9) ENSP00000350813.3:p.Glu2961Lys
ENST00000359028.6:c.9031G>A (AKAP9) ENSP00000351922.3:p.Glu3011Lys
ENST00000359028.7:c.9094G>A (AKAP9) ENSP00000351922.4:p.Glu3032Lys
ENST00000394534.6:c.2560G>A (AKAP9) ENSP00000378042.2:p.Glu854Lys
ENST00000394534.7:c.2515G>A (AKAP9) ENSP00000378042.3:p.Glu839Lys
ENST00000435423.1:c.456G>A (AKAP9)
ENST00000435423.2:n.862G>A (AKAP9)
ENST00000491695.2:c.3667G>A (AKAP9) ENSP00000494626.2:p.Glu1223Lys
ENST00000679448.1:c.8998G>A (AKAP9) ENSP00000505889.1:p.Glu3000Lys
ENST00000679457.1:c.8998G>A (AKAP9) ENSP00000505450.1:p.Glu3000Lys
ENST00000679474.1:n.9220G>A (AKAP9)
ENST00000679521.1:c.8968G>A (AKAP9) ENSP00000505456.1:p.Glu2990Lys
ENST00000679722.1:n.9244G>A (AKAP9)
ENST00000679821.1:c.8764G>A (AKAP9) ENSP00000506040.1:p.Glu2922Lys
ENST00000680047.1:n.9220G>A (AKAP9)
ENST00000680072.1:c.8845G>A (AKAP9) ENSP00000506581.1:p.Glu2949Lys
ENST00000680181.1:c.8929G>A (AKAP9) ENSP00000505548.1:p.Glu2977Lys
ENST00000680365.1:c.2515G>A (AKAP9) ENSP00000506019.1:p.Glu839Lys
ENST00000680513.1:c.8881G>A (AKAP9) ENSP00000505284.1:p.Glu2961Lys
ENST00000680534.1:c.9061G>A (AKAP9) ENSP00000506674.1:p.Glu3021Lys
ENST00000680766.1:c.8998G>A (AKAP9) ENSP00000505204.1:p.Glu3000Lys
ENST00000680952.1:c.8998G>A (AKAP9) ENSP00000506407.1:p.Glu3000Lys
ENST00000681216.1:c.2359G>A (AKAP9) ENSP00000505551.1:p.Glu787Lys
ENST00000681412.1:c.9022G>A (AKAP9) ENSP00000506486.1:p.Glu3008Lys
ENST00000681722.1:c.8998G>A (AKAP9) ENSP00000506566.1:p.Glu3000Lys
ENST00000691309.1:c.1352-82C>T (CYP51A1) ENSP00000510368.1:n.1352-82C>T
XM_006715827.1:c.8881G>A (AKAP9) XP_006715890.1:p.Glu2961Lys
XM_011515709.1:c.9169G>A (AKAP9) XP_011514011.1:p.Glu3057Lys
XM_011515710.1:c.9193G>A (AKAP9) XP_011514012.1:p.Glu3065Lys
XM_011515711.1:c.9133G>A (AKAP9) XP_011514013.1:p.Glu3045Lys
XM_011515712.1:c.9130G>A (AKAP9) XP_011514014.1:p.Glu3044Lys
XM_011515713.1:c.9115G>A (AKAP9) XP_011514015.1:p.Glu3039Lys
XM_011515714.1:c.9154G>A (AKAP9) XP_011514016.1:p.Glu3052Lys
XM_011515716.1:c.9073G>A (AKAP9) XP_011514018.1:p.Glu3025Lys
XM_011515717.1:c.9028G>A (AKAP9) XP_011514019.1:p.Glu3010Lys
XM_011515718.1:c.9058G>A (AKAP9) XP_011514020.1:p.Glu3020Lys
XM_011515719.1:c.9034G>A (AKAP9) XP_011514021.1:p.Glu3012Lys
XM_011515720.1:c.8917G>A (AKAP9) XP_011514022.1:p.Glu2973Lys
XM_011515721.1:c.3682G>A (AKAP9) XP_011514023.1:p.Glu1228Lys
XM_011515722.1:c.3643G>A (AKAP9) XP_011514024.1:p.Glu1215Lys
XM_017011642.2:c.9157G>A (AKAP9) XP_016867131.1:p.Glu3053Lys
XM_017011643.2:c.9118G>A (AKAP9) XP_016867132.1:p.Glu3040Lys
XM_017011644.2:c.9157G>A (AKAP9) XP_016867133.1:p.Glu3053Lys
XM_017011645.2:c.9103G>A (AKAP9) XP_016867134.1:p.Glu3035Lys
XM_017011646.2:c.9118G>A (AKAP9) XP_016867135.1:p.Glu3040Lys
XM_017011647.2:c.9064G>A (AKAP9) XP_016867136.1:p.Glu3022Lys
XM_017011648.2:c.9061G>A (AKAP9) XP_016867137.1:p.Glu3021Lys
XM_017011649.2:c.9094G>A (AKAP9) XP_016867138.1:p.Glu3032Lys
XM_017011650.2:c.9022G>A (AKAP9) XP_016867139.1:p.Glu3008Lys
XM_017011651.2:c.9016G>A (AKAP9) XP_016867140.1:p.Glu3006Lys
XM_017011652.2:c.9157G>A (AKAP9) XP_016867141.1:p.Glu3053Lys
XM_017011653.2:c.8929G>A (AKAP9) XP_016867142.1:p.Glu2977Lys
XM_017011654.2:c.8881G>A (AKAP9) XP_016867143.1:p.Glu2961Lys
XM_017011655.2:c.8785G>A (AKAP9) XP_016867144.1:p.Glu2929Lys
XM_017011656.2:c.8785G>A (AKAP9) XP_016867145.1:p.Glu2929Lys
XM_017011657.2:c.4822G>A (AKAP9) XP_016867146.1:p.Glu1608Lys
XM_017011658.2:c.3706G>A (AKAP9) XP_016867147.1:p.Glu1236Lys
XM_017011659.2:c.3667G>A (AKAP9) XP_016867148.1:p.Glu1223Lys
XM_017011660.2:c.3667G>A (AKAP9) XP_016867149.1:p.Glu1223Lys
XM_024446631.1:c.8920G>A (AKAP9) XP_024302399.1:p.Glu2974Lys