Canonical Allele Identifier: CA4337973
Community Standard Title: NM_005751.5(AKAP9):c.10591C>G (p.Gln3531Glu)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92097778C>G , CM000669.2:g.92097778C>G GRCh38
NC_000007.13:g.91727092C>G , CM000669.1:g.91727092C>G GRCh37
NC_000007.12:g.91565028C>G NCBI36
NG_011623.1:g.161904C>G , LRG_331:g.161904C>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.10591C>G (AKAP9) MANE Select NP_005742.4:p.Gln3531Glu
ENST00000356239.8:c.10591C>G (AKAP9) MANE Select ENSP00000348573.3:p.Gln3531Glu
NM_001379277.1:c.5236C>G (AKAP9) NP_001366206.1:p.Gln1746Glu
NM_005751.4:c.10591C>G , LRG_331t1:c.10591C>G (AKAP9) NP_005742.4:p.Gln3531Glu
NM_147185.2:c.10567C>G (AKAP9) NP_671714.1:p.Gln3523Glu
NM_147185.3:c.10567C>G (AKAP9) NP_671714.1:p.Gln3523Glu
ENST00000356239.7:c.10591C>G (AKAP9) ENSP00000348573.3:p.Gln3531Glu
ENST00000359028.6:c.10600C>G (AKAP9) ENSP00000351922.3:p.Gln3534Glu
ENST00000359028.7:c.10663C>G (AKAP9) ENSP00000351922.4:p.Gln3555Glu
ENST00000394534.6:c.4129C>G (AKAP9) ENSP00000378042.2:p.Gln1377Glu
ENST00000394534.7:c.3583C>G (AKAP9) ENSP00000378042.3:p.Gln1195Glu
ENST00000486313.2:c.79C>G (AKAP9) ENSP00000505389.1:p.Gln27Glu
ENST00000487258.5:n.2341C>G (AKAP9)
ENST00000487692.1:n.391C>G (AKAP9)
ENST00000487692.2:n.2669C>G (AKAP9)
ENST00000491695.2:c.5236C>G (AKAP9) ENSP00000494626.2:p.Gln1746Glu
ENST00000679448.1:c.*1471C>G (AKAP9) ENSP00000505889.1:n.*1471C>G
ENST00000679457.1:c.10567C>G (AKAP9) ENSP00000505450.1:p.Gln3523Glu
ENST00000679474.1:n.10789C>G (AKAP9)
ENST00000679521.1:c.10537C>G (AKAP9) ENSP00000505456.1:p.Gln3513Glu
ENST00000679821.1:c.10333C>G (AKAP9) ENSP00000506040.1:p.Gln3445Glu
ENST00000680047.1:n.10789C>G (AKAP9)
ENST00000680072.1:c.10414C>G (AKAP9) ENSP00000506581.1:p.Gln3472Glu
ENST00000680181.1:c.10498C>G (AKAP9) ENSP00000505548.1:p.Gln3500Glu
ENST00000680365.1:c.4230C>G (AKAP9) ENSP00000506019.1:n.4230C>G
ENST00000680513.1:c.10450C>G (AKAP9) ENSP00000505284.1:p.Gln3484Glu
ENST00000680534.1:c.10630C>G (AKAP9) ENSP00000506674.1:p.Gln3544Glu
ENST00000680766.1:c.10567C>G (AKAP9) ENSP00000505204.1:p.Gln3523Glu
ENST00000680952.1:c.10567C>G (AKAP9) ENSP00000506407.1:p.Gln3523Glu
ENST00000681216.1:c.4351C>G (AKAP9) ENSP00000505551.1:n.4351C>G
ENST00000681412.1:c.10591C>G (AKAP9) ENSP00000506486.1:p.Gln3531Glu
ENST00000681722.1:c.10567C>G (AKAP9) ENSP00000506566.1:p.Gln3523Glu
ENST00000691309.1:c.1352-12176G>C (CYP51A1) ENSP00000510368.1:n.1352-12176G>C
XM_006715827.1:c.10450C>G (AKAP9) XP_006715890.1:p.Gln3484Glu
XM_011515709.1:c.10738C>G (AKAP9) XP_011514011.1:p.Gln3580Glu
XM_011515710.1:c.10762C>G (AKAP9) XP_011514012.1:p.Gln3588Glu
XM_011515711.1:c.10702C>G (AKAP9) XP_011514013.1:p.Gln3568Glu
XM_011515712.1:c.10699C>G (AKAP9) XP_011514014.1:p.Gln3567Glu
XM_011515713.1:c.10684C>G (AKAP9) XP_011514015.1:p.Gln3562Glu
XM_011515714.1:c.10723C>G (AKAP9) XP_011514016.1:p.Gln3575Glu
XM_011515716.1:c.10642C>G (AKAP9) XP_011514018.1:p.Gln3548Glu
XM_011515717.1:c.10597C>G (AKAP9) XP_011514019.1:p.Gln3533Glu
XM_011515718.1:c.10627C>G (AKAP9) XP_011514020.1:p.Gln3543Glu
XM_011515719.1:c.10603C>G (AKAP9) XP_011514021.1:p.Gln3535Glu
XM_011515721.1:c.5251C>G (AKAP9) XP_011514023.1:p.Gln1751Glu
XM_011515722.1:c.5212C>G (AKAP9) XP_011514024.1:p.Gln1738Glu
XM_017011642.2:c.10726C>G (AKAP9) XP_016867131.1:p.Gln3576Glu
XM_017011643.2:c.10687C>G (AKAP9) XP_016867132.1:p.Gln3563Glu
XM_017011644.2:c.10726C>G (AKAP9) XP_016867133.1:p.Gln3576Glu
XM_017011645.2:c.10672C>G (AKAP9) XP_016867134.1:p.Gln3558Glu
XM_017011646.2:c.10687C>G (AKAP9) XP_016867135.1:p.Gln3563Glu
XM_017011647.2:c.10633C>G (AKAP9) XP_016867136.1:p.Gln3545Glu
XM_017011648.2:c.10630C>G (AKAP9) XP_016867137.1:p.Gln3544Glu
XM_017011649.2:c.10663C>G (AKAP9) XP_016867138.1:p.Gln3555Glu
XM_017011650.2:c.10591C>G (AKAP9) XP_016867139.1:p.Gln3531Glu
XM_017011651.2:c.10585C>G (AKAP9) XP_016867140.1:p.Gln3529Glu
XM_017011652.2:c.10537C>G (AKAP9) XP_016867141.1:p.Gln3513Glu
XM_017011653.2:c.10498C>G (AKAP9) XP_016867142.1:p.Gln3500Glu
XM_017011654.2:c.10450C>G (AKAP9) XP_016867143.1:p.Gln3484Glu
XM_017011655.2:c.10354C>G (AKAP9) XP_016867144.1:p.Gln3452Glu
XM_017011656.2:c.10354C>G (AKAP9) XP_016867145.1:p.Gln3452Glu
XM_017011657.2:c.6391C>G (AKAP9) XP_016867146.1:p.Gln2131Glu
XM_017011658.2:c.5275C>G (AKAP9) XP_016867147.1:p.Gln1759Glu
XM_017011659.2:c.5236C>G (AKAP9) XP_016867148.1:p.Gln1746Glu
XM_017011660.2:c.5236C>G (AKAP9) XP_016867149.1:p.Gln1746Glu
XM_024446631.1:c.10489C>G (AKAP9) XP_024302399.1:p.Gln3497Glu