Canonical Allele Identifier: CA368158459

Gene: CYP51A1 AKAP9

Linked Data

• COSMIC: COSM6111440 ; COSM6111441
• MyVariant Identifiers: chr7:g.91729041C>T (hg19) ; chr7:g.92099727C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92099727C>T , CM000669.2:g.92099727C>T	GRCh38
NC_000007.13:g.91729041C>T , CM000669.1:g.91729041C>T	GRCh37
NC_000007.12:g.91566977C>T	NCBI36
NG_011623.1:g.163853C>T , LRG_331:g.163853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691309.1:c.1352-14125G>A (CYP51A1)	ENSP00000510368.1:n.1352-14125G>A
ENST00000356239.8:c.10754C>T (AKAP9) MANE Select	ENSP00000348573.3:p.Thr3585Ile
ENST00000359028.7:c.10826C>T (AKAP9)	ENSP00000351922.4:p.Thr3609Ile
ENST00000394534.7:c.3746C>T (AKAP9)	ENSP00000378042.3:p.Thr1249Ile
ENST00000463118.2:n.102C>T (AKAP9)
ENST00000486313.2:c.242C>T (AKAP9)	ENSP00000505389.1:p.Thr81Ile
ENST00000487692.2:n.2832C>T (AKAP9)
ENST00000491695.2:c.5399C>T (AKAP9)	ENSP00000494626.2:p.Thr1800Ile
ENST00000679448.1:c.*1634C>T (AKAP9)	ENSP00000505889.1:n.*1634C>T
ENST00000679457.1:c.10730C>T (AKAP9)	ENSP00000505450.1:p.Thr3577Ile
ENST00000679474.1:n.10952C>T (AKAP9)
ENST00000679521.1:c.10700C>T (AKAP9)	ENSP00000505456.1:p.Thr3567Ile
ENST00000679821.1:c.10496C>T (AKAP9)	ENSP00000506040.1:p.Thr3499Ile
ENST00000680047.1:n.12424C>T (AKAP9)
ENST00000680072.1:c.10577C>T (AKAP9)	ENSP00000506581.1:p.Thr3526Ile
ENST00000680181.1:c.10661C>T (AKAP9)	ENSP00000505548.1:p.Thr3554Ile
ENST00000680365.1:c.4393C>T (AKAP9)	ENSP00000506019.1:n.4393C>T
ENST00000680513.1:c.10613C>T (AKAP9)	ENSP00000505284.1:p.Thr3538Ile
ENST00000680534.1:c.10793C>T (AKAP9)	ENSP00000506674.1:p.Thr3598Ile
ENST00000680766.1:c.10730C>T (AKAP9)	ENSP00000505204.1:p.Thr3577Ile
ENST00000680952.1:c.10730C>T (AKAP9)	ENSP00000506407.1:p.Thr3577Ile
ENST00000681216.1:c.4514C>T (AKAP9)	ENSP00000505551.1:n.4514C>T
ENST00000681412.1:c.10754C>T (AKAP9)	ENSP00000506486.1:p.Thr3585Ile
ENST00000681722.1:c.10730C>T (AKAP9)	ENSP00000506566.1:p.Thr3577Ile
ENST00000356239.7:c.10754C>T (AKAP9)	ENSP00000348573.3:p.Thr3585Ile
ENST00000359028.6:c.10763C>T (AKAP9)	ENSP00000351922.3:p.Thr3588Ile
ENST00000394534.6:c.4292C>T (AKAP9)	ENSP00000378042.2:p.Thr1431Ile
ENST00000463118.1:n.102C>T (AKAP9)
ENST00000487258.5:n.2504C>T (AKAP9)
ENST00000487692.1:n.554C>T (AKAP9)
NM_005751.4:c.10754C>T , LRG_331t1:c.10754C>T (AKAP9)	NP_005742.4:p.Thr3585Ile
NM_147185.2:c.10730C>T (AKAP9)	NP_671714.1:p.Thr3577Ile
XM_006715827.1:c.10613C>T (AKAP9)	XP_006715890.1:p.Thr3538Ile
XM_011515709.1:c.10901C>T (AKAP9)	XP_011514011.1:p.Thr3634Ile
XM_011515710.1:c.10925C>T (AKAP9)	XP_011514012.1:p.Thr3642Ile
XM_011515711.1:c.10865C>T (AKAP9)	XP_011514013.1:p.Thr3622Ile
XM_011515712.1:c.10862C>T (AKAP9)	XP_011514014.1:p.Thr3621Ile
XM_011515713.1:c.10847C>T (AKAP9)	XP_011514015.1:p.Thr3616Ile
XM_011515714.1:c.10886C>T (AKAP9)	XP_011514016.1:p.Thr3629Ile
XM_011515716.1:c.10805C>T (AKAP9)	XP_011514018.1:p.Thr3602Ile
XM_011515717.1:c.10760C>T (AKAP9)	XP_011514019.1:p.Thr3587Ile
XM_011515718.1:c.10790C>T (AKAP9)	XP_011514020.1:p.Thr3597Ile
XM_011515719.1:c.10766C>T (AKAP9)	XP_011514021.1:p.Thr3589Ile
XM_011515721.1:c.5414C>T (AKAP9)	XP_011514023.1:p.Thr1805Ile
XM_011515722.1:c.5375C>T (AKAP9)	XP_011514024.1:p.Thr1792Ile
XM_017011642.2:c.10889C>T (AKAP9)	XP_016867131.1:p.Thr3630Ile
XM_017011643.2:c.10850C>T (AKAP9)	XP_016867132.1:p.Thr3617Ile
XM_017011644.2:c.10889C>T (AKAP9)	XP_016867133.1:p.Thr3630Ile
XM_017011645.2:c.10835C>T (AKAP9)	XP_016867134.1:p.Thr3612Ile
XM_017011646.2:c.10850C>T (AKAP9)	XP_016867135.1:p.Thr3617Ile
XM_017011647.2:c.10796C>T (AKAP9)	XP_016867136.1:p.Thr3599Ile
XM_017011648.2:c.10793C>T (AKAP9)	XP_016867137.1:p.Thr3598Ile
XM_017011649.2:c.10826C>T (AKAP9)	XP_016867138.1:p.Thr3609Ile
XM_017011650.2:c.10754C>T (AKAP9)	XP_016867139.1:p.Thr3585Ile
XM_017011651.2:c.10748C>T (AKAP9)	XP_016867140.1:p.Thr3583Ile
XM_017011652.2:c.10700C>T (AKAP9)	XP_016867141.1:p.Thr3567Ile
XM_017011653.2:c.10661C>T (AKAP9)	XP_016867142.1:p.Thr3554Ile
XM_017011654.2:c.10613C>T (AKAP9)	XP_016867143.1:p.Thr3538Ile
XM_017011655.2:c.10517C>T (AKAP9)	XP_016867144.1:p.Thr3506Ile
XM_017011656.2:c.10517C>T (AKAP9)	XP_016867145.1:p.Thr3506Ile
XM_017011657.2:c.6554C>T (AKAP9)	XP_016867146.1:p.Thr2185Ile
XM_017011658.2:c.5438C>T (AKAP9)	XP_016867147.1:p.Thr1813Ile
XM_017011659.2:c.5399C>T (AKAP9)	XP_016867148.1:p.Thr1800Ile
XM_017011660.2:c.5399C>T (AKAP9)	XP_016867149.1:p.Thr1800Ile
XM_024446631.1:c.10652C>T (AKAP9)	XP_024302399.1:p.Thr3551Ile
NM_147185.3:c.10730C>T (AKAP9)	NP_671714.1:p.Thr3577Ile
NM_001379277.1:c.5399C>T (AKAP9)	NP_001366206.1:p.Thr1800Ile
NM_005751.5:c.10754C>T (AKAP9) MANE Select	NP_005742.4:p.Thr3585Ile