Canonical Allele Identifier: CA368158454

Gene: CYP51A1 AKAP9

Linked Data

• MyVariant Identifiers: chr7:g.91729040A>T (hg19) ; chr7:g.92099726A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92099726A>T , CM000669.2:g.92099726A>T	GRCh38
NC_000007.13:g.91729040A>T , CM000669.1:g.91729040A>T	GRCh37
NC_000007.12:g.91566976A>T	NCBI36
NG_011623.1:g.163852A>T , LRG_331:g.163852A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691309.1:c.1352-14124T>A (CYP51A1)	ENSP00000510368.1:n.1352-14124T>A
ENST00000356239.8:c.10753A>T (AKAP9) MANE Select	ENSP00000348573.3:p.Thr3585Ser
ENST00000359028.7:c.10825A>T (AKAP9)	ENSP00000351922.4:p.Thr3609Ser
ENST00000394534.7:c.3745A>T (AKAP9)	ENSP00000378042.3:p.Thr1249Ser
ENST00000463118.2:n.101A>T (AKAP9)
ENST00000486313.2:c.241A>T (AKAP9)	ENSP00000505389.1:p.Thr81Ser
ENST00000487692.2:n.2831A>T (AKAP9)
ENST00000491695.2:c.5398A>T (AKAP9)	ENSP00000494626.2:p.Thr1800Ser
ENST00000679448.1:c.*1633A>T (AKAP9)	ENSP00000505889.1:n.*1633A>T
ENST00000679457.1:c.10729A>T (AKAP9)	ENSP00000505450.1:p.Thr3577Ser
ENST00000679474.1:n.10951A>T (AKAP9)
ENST00000679521.1:c.10699A>T (AKAP9)	ENSP00000505456.1:p.Thr3567Ser
ENST00000679821.1:c.10495A>T (AKAP9)	ENSP00000506040.1:p.Thr3499Ser
ENST00000680047.1:n.12423A>T (AKAP9)
ENST00000680072.1:c.10576A>T (AKAP9)	ENSP00000506581.1:p.Thr3526Ser
ENST00000680181.1:c.10660A>T (AKAP9)	ENSP00000505548.1:p.Thr3554Ser
ENST00000680365.1:c.4392A>T (AKAP9)	ENSP00000506019.1:n.4392A>T
ENST00000680513.1:c.10612A>T (AKAP9)	ENSP00000505284.1:p.Thr3538Ser
ENST00000680534.1:c.10792A>T (AKAP9)	ENSP00000506674.1:p.Thr3598Ser
ENST00000680766.1:c.10729A>T (AKAP9)	ENSP00000505204.1:p.Thr3577Ser
ENST00000680952.1:c.10729A>T (AKAP9)	ENSP00000506407.1:p.Thr3577Ser
ENST00000681216.1:c.4513A>T (AKAP9)	ENSP00000505551.1:n.4513A>T
ENST00000681412.1:c.10753A>T (AKAP9)	ENSP00000506486.1:p.Thr3585Ser
ENST00000681722.1:c.10729A>T (AKAP9)	ENSP00000506566.1:p.Thr3577Ser
ENST00000356239.7:c.10753A>T (AKAP9)	ENSP00000348573.3:p.Thr3585Ser
ENST00000359028.6:c.10762A>T (AKAP9)	ENSP00000351922.3:p.Thr3588Ser
ENST00000394534.6:c.4291A>T (AKAP9)	ENSP00000378042.2:p.Thr1431Ser
ENST00000463118.1:n.101A>T (AKAP9)
ENST00000487258.5:n.2503A>T (AKAP9)
ENST00000487692.1:n.553A>T (AKAP9)
NM_005751.4:c.10753A>T , LRG_331t1:c.10753A>T (AKAP9)	NP_005742.4:p.Thr3585Ser
NM_147185.2:c.10729A>T (AKAP9)	NP_671714.1:p.Thr3577Ser
XM_006715827.1:c.10612A>T (AKAP9)	XP_006715890.1:p.Thr3538Ser
XM_011515709.1:c.10900A>T (AKAP9)	XP_011514011.1:p.Thr3634Ser
XM_011515710.1:c.10924A>T (AKAP9)	XP_011514012.1:p.Thr3642Ser
XM_011515711.1:c.10864A>T (AKAP9)	XP_011514013.1:p.Thr3622Ser
XM_011515712.1:c.10861A>T (AKAP9)	XP_011514014.1:p.Thr3621Ser
XM_011515713.1:c.10846A>T (AKAP9)	XP_011514015.1:p.Thr3616Ser
XM_011515714.1:c.10885A>T (AKAP9)	XP_011514016.1:p.Thr3629Ser
XM_011515716.1:c.10804A>T (AKAP9)	XP_011514018.1:p.Thr3602Ser
XM_011515717.1:c.10759A>T (AKAP9)	XP_011514019.1:p.Thr3587Ser
XM_011515718.1:c.10789A>T (AKAP9)	XP_011514020.1:p.Thr3597Ser
XM_011515719.1:c.10765A>T (AKAP9)	XP_011514021.1:p.Thr3589Ser
XM_011515721.1:c.5413A>T (AKAP9)	XP_011514023.1:p.Thr1805Ser
XM_011515722.1:c.5374A>T (AKAP9)	XP_011514024.1:p.Thr1792Ser
XM_017011642.2:c.10888A>T (AKAP9)	XP_016867131.1:p.Thr3630Ser
XM_017011643.2:c.10849A>T (AKAP9)	XP_016867132.1:p.Thr3617Ser
XM_017011644.2:c.10888A>T (AKAP9)	XP_016867133.1:p.Thr3630Ser
XM_017011645.2:c.10834A>T (AKAP9)	XP_016867134.1:p.Thr3612Ser
XM_017011646.2:c.10849A>T (AKAP9)	XP_016867135.1:p.Thr3617Ser
XM_017011647.2:c.10795A>T (AKAP9)	XP_016867136.1:p.Thr3599Ser
XM_017011648.2:c.10792A>T (AKAP9)	XP_016867137.1:p.Thr3598Ser
XM_017011649.2:c.10825A>T (AKAP9)	XP_016867138.1:p.Thr3609Ser
XM_017011650.2:c.10753A>T (AKAP9)	XP_016867139.1:p.Thr3585Ser
XM_017011651.2:c.10747A>T (AKAP9)	XP_016867140.1:p.Thr3583Ser
XM_017011652.2:c.10699A>T (AKAP9)	XP_016867141.1:p.Thr3567Ser
XM_017011653.2:c.10660A>T (AKAP9)	XP_016867142.1:p.Thr3554Ser
XM_017011654.2:c.10612A>T (AKAP9)	XP_016867143.1:p.Thr3538Ser
XM_017011655.2:c.10516A>T (AKAP9)	XP_016867144.1:p.Thr3506Ser
XM_017011656.2:c.10516A>T (AKAP9)	XP_016867145.1:p.Thr3506Ser
XM_017011657.2:c.6553A>T (AKAP9)	XP_016867146.1:p.Thr2185Ser
XM_017011658.2:c.5437A>T (AKAP9)	XP_016867147.1:p.Thr1813Ser
XM_017011659.2:c.5398A>T (AKAP9)	XP_016867148.1:p.Thr1800Ser
XM_017011660.2:c.5398A>T (AKAP9)	XP_016867149.1:p.Thr1800Ser
XM_024446631.1:c.10651A>T (AKAP9)	XP_024302399.1:p.Thr3551Ser
NM_147185.3:c.10729A>T (AKAP9)	NP_671714.1:p.Thr3577Ser
NM_001379277.1:c.5398A>T (AKAP9)	NP_001366206.1:p.Thr1800Ser
NM_005751.5:c.10753A>T (AKAP9) MANE Select	NP_005742.4:p.Thr3585Ser