Canonical Allele Identifier: CA4337969

Gene: CYP51A1 AKAP9

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92097747A>G , CM000669.2:g.92097747A>G	GRCh38
NC_000007.13:g.91727061A>G , CM000669.1:g.91727061A>G	GRCh37
NC_000007.12:g.91564997A>G	NCBI36
NG_011623.1:g.161873A>G , LRG_331:g.161873A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005751.5:c.10560A>G (AKAP9) MANE Select	NP_005742.4:p.Gln3520=
ENST00000356239.8:c.10560A>G (AKAP9) MANE Select	ENSP00000348573.3:p.Gln3520=
NM_001379277.1:c.5205A>G (AKAP9)	NP_001366206.1:p.Gln1735=
NM_005751.4:c.10560A>G , LRG_331t1:c.10560A>G (AKAP9)	NP_005742.4:p.Gln3520=
NM_147185.2:c.10536A>G (AKAP9)	NP_671714.1:p.Gln3512=
NM_147185.3:c.10536A>G (AKAP9)	NP_671714.1:p.Gln3512=
ENST00000356239.7:c.10560A>G (AKAP9)	ENSP00000348573.3:p.Gln3520=
ENST00000359028.6:c.10569A>G (AKAP9)	ENSP00000351922.3:p.Gln3523=
ENST00000359028.7:c.10632A>G (AKAP9)	ENSP00000351922.4:p.Gln3544=
ENST00000394534.6:c.4098A>G (AKAP9)	ENSP00000378042.2:p.Gln1366=
ENST00000394534.7:c.3552A>G (AKAP9)	ENSP00000378042.3:p.Gln1184=
ENST00000486313.2:c.48A>G (AKAP9)	ENSP00000505389.1:p.Gln16=
ENST00000487258.5:n.2310A>G (AKAP9)
ENST00000487692.1:n.360A>G (AKAP9)
ENST00000487692.2:n.2638A>G (AKAP9)
ENST00000491695.2:c.5205A>G (AKAP9)	ENSP00000494626.2:p.Gln1735=
ENST00000679448.1:c.*1440A>G (AKAP9)	ENSP00000505889.1:n.*1440A>G
ENST00000679457.1:c.10536A>G (AKAP9)	ENSP00000505450.1:p.Gln3512=
ENST00000679474.1:n.10758A>G (AKAP9)
ENST00000679521.1:c.10506A>G (AKAP9)	ENSP00000505456.1:p.Gln3502=
ENST00000679821.1:c.10302A>G (AKAP9)	ENSP00000506040.1:p.Gln3434=
ENST00000680047.1:n.10758A>G (AKAP9)
ENST00000680072.1:c.10383A>G (AKAP9)	ENSP00000506581.1:p.Gln3461=
ENST00000680181.1:c.10467A>G (AKAP9)	ENSP00000505548.1:p.Gln3489=
ENST00000680365.1:c.4199A>G (AKAP9)	ENSP00000506019.1:n.4199A>G
ENST00000680513.1:c.10419A>G (AKAP9)	ENSP00000505284.1:p.Gln3473=
ENST00000680534.1:c.10599A>G (AKAP9)	ENSP00000506674.1:p.Gln3533=
ENST00000680766.1:c.10536A>G (AKAP9)	ENSP00000505204.1:p.Gln3512=
ENST00000680952.1:c.10536A>G (AKAP9)	ENSP00000506407.1:p.Gln3512=
ENST00000681216.1:c.4320A>G (AKAP9)	ENSP00000505551.1:n.4320A>G
ENST00000681412.1:c.10560A>G (AKAP9)	ENSP00000506486.1:p.Gln3520=
ENST00000681722.1:c.10536A>G (AKAP9)	ENSP00000506566.1:p.Gln3512=
ENST00000691309.1:c.1352-12145T>C (CYP51A1)	ENSP00000510368.1:n.1352-12145T>C
XM_006715827.1:c.10419A>G (AKAP9)	XP_006715890.1:p.Gln3473=
XM_011515709.1:c.10707A>G (AKAP9)	XP_011514011.1:p.Gln3569=
XM_011515710.1:c.10731A>G (AKAP9)	XP_011514012.1:p.Gln3577=
XM_011515711.1:c.10671A>G (AKAP9)	XP_011514013.1:p.Gln3557=
XM_011515712.1:c.10668A>G (AKAP9)	XP_011514014.1:p.Gln3556=
XM_011515713.1:c.10653A>G (AKAP9)	XP_011514015.1:p.Gln3551=
XM_011515714.1:c.10692A>G (AKAP9)	XP_011514016.1:p.Gln3564=
XM_011515716.1:c.10611A>G (AKAP9)	XP_011514018.1:p.Gln3537=
XM_011515717.1:c.10566A>G (AKAP9)	XP_011514019.1:p.Gln3522=
XM_011515718.1:c.10596A>G (AKAP9)	XP_011514020.1:p.Gln3532=
XM_011515719.1:c.10572A>G (AKAP9)	XP_011514021.1:p.Gln3524=
XM_011515721.1:c.5220A>G (AKAP9)	XP_011514023.1:p.Gln1740=
XM_011515722.1:c.5181A>G (AKAP9)	XP_011514024.1:p.Gln1727=
XM_017011642.2:c.10695A>G (AKAP9)	XP_016867131.1:p.Gln3565=
XM_017011643.2:c.10656A>G (AKAP9)	XP_016867132.1:p.Gln3552=
XM_017011644.2:c.10695A>G (AKAP9)	XP_016867133.1:p.Gln3565=
XM_017011645.2:c.10641A>G (AKAP9)	XP_016867134.1:p.Gln3547=
XM_017011646.2:c.10656A>G (AKAP9)	XP_016867135.1:p.Gln3552=
XM_017011647.2:c.10602A>G (AKAP9)	XP_016867136.1:p.Gln3534=
XM_017011648.2:c.10599A>G (AKAP9)	XP_016867137.1:p.Gln3533=
XM_017011649.2:c.10632A>G (AKAP9)	XP_016867138.1:p.Gln3544=
XM_017011650.2:c.10560A>G (AKAP9)	XP_016867139.1:p.Gln3520=
XM_017011651.2:c.10554A>G (AKAP9)	XP_016867140.1:p.Gln3518=
XM_017011652.2:c.10506A>G (AKAP9)	XP_016867141.1:p.Gln3502=
XM_017011653.2:c.10467A>G (AKAP9)	XP_016867142.1:p.Gln3489=
XM_017011654.2:c.10419A>G (AKAP9)	XP_016867143.1:p.Gln3473=
XM_017011655.2:c.10323A>G (AKAP9)	XP_016867144.1:p.Gln3441=
XM_017011656.2:c.10323A>G (AKAP9)	XP_016867145.1:p.Gln3441=
XM_017011657.2:c.6360A>G (AKAP9)	XP_016867146.1:p.Gln2120=
XM_017011658.2:c.5244A>G (AKAP9)	XP_016867147.1:p.Gln1748=
XM_017011659.2:c.5205A>G (AKAP9)	XP_016867148.1:p.Gln1735=
XM_017011660.2:c.5205A>G (AKAP9)	XP_016867149.1:p.Gln1735=
XM_024446631.1:c.10458A>G (AKAP9)	XP_024302399.1:p.Gln3486=