Canonical Allele Identifier: CA368158423

Gene: CYP51A1 AKAP9

Linked Data

• MyVariant Identifiers: chr7:g.91729035C>G (hg19) ; chr7:g.92099721C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92099721C>G , CM000669.2:g.92099721C>G	GRCh38
NC_000007.13:g.91729035C>G , CM000669.1:g.91729035C>G	GRCh37
NC_000007.12:g.91566971C>G	NCBI36
NG_011623.1:g.163847C>G , LRG_331:g.163847C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691309.1:c.1352-14119G>C (CYP51A1)	ENSP00000510368.1:n.1352-14119G>C
ENST00000356239.8:c.10748C>G (AKAP9) MANE Select	ENSP00000348573.3:p.Ser3583Ter
ENST00000359028.7:c.10820C>G (AKAP9)	ENSP00000351922.4:p.Ser3607Ter
ENST00000394534.7:c.3740C>G (AKAP9)	ENSP00000378042.3:p.Ser1247Ter
ENST00000463118.2:n.96C>G (AKAP9)
ENST00000486313.2:c.236C>G (AKAP9)	ENSP00000505389.1:p.Ser79Ter
ENST00000487692.2:n.2826C>G (AKAP9)
ENST00000491695.2:c.5393C>G (AKAP9)	ENSP00000494626.2:p.Ser1798Ter
ENST00000679448.1:c.*1628C>G (AKAP9)	ENSP00000505889.1:n.*1628C>G
ENST00000679457.1:c.10724C>G (AKAP9)	ENSP00000505450.1:p.Ser3575Ter
ENST00000679474.1:n.10946C>G (AKAP9)
ENST00000679521.1:c.10694C>G (AKAP9)	ENSP00000505456.1:p.Ser3565Ter
ENST00000679821.1:c.10490C>G (AKAP9)	ENSP00000506040.1:p.Ser3497Ter
ENST00000680047.1:n.12418C>G (AKAP9)
ENST00000680072.1:c.10571C>G (AKAP9)	ENSP00000506581.1:p.Ser3524Ter
ENST00000680181.1:c.10655C>G (AKAP9)	ENSP00000505548.1:p.Ser3552Ter
ENST00000680365.1:c.4387C>G (AKAP9)	ENSP00000506019.1:n.4387C>G
ENST00000680513.1:c.10607C>G (AKAP9)	ENSP00000505284.1:p.Ser3536Ter
ENST00000680534.1:c.10787C>G (AKAP9)	ENSP00000506674.1:p.Ser3596Ter
ENST00000680766.1:c.10724C>G (AKAP9)	ENSP00000505204.1:p.Ser3575Ter
ENST00000680952.1:c.10724C>G (AKAP9)	ENSP00000506407.1:p.Ser3575Ter
ENST00000681216.1:c.4508C>G (AKAP9)	ENSP00000505551.1:n.4508C>G
ENST00000681412.1:c.10748C>G (AKAP9)	ENSP00000506486.1:p.Ser3583Ter
ENST00000681722.1:c.10724C>G (AKAP9)	ENSP00000506566.1:p.Ser3575Ter
ENST00000356239.7:c.10748C>G (AKAP9)	ENSP00000348573.3:p.Ser3583Ter
ENST00000359028.6:c.10757C>G (AKAP9)	ENSP00000351922.3:p.Ser3586Ter
ENST00000394534.6:c.4286C>G (AKAP9)	ENSP00000378042.2:p.Ser1429Ter
ENST00000463118.1:n.96C>G (AKAP9)
ENST00000487258.5:n.2498C>G (AKAP9)
ENST00000487692.1:n.548C>G (AKAP9)
NM_005751.4:c.10748C>G , LRG_331t1:c.10748C>G (AKAP9)	NP_005742.4:p.Ser3583Ter
NM_147185.2:c.10724C>G (AKAP9)	NP_671714.1:p.Ser3575Ter
XM_006715827.1:c.10607C>G (AKAP9)	XP_006715890.1:p.Ser3536Ter
XM_011515709.1:c.10895C>G (AKAP9)	XP_011514011.1:p.Ser3632Ter
XM_011515710.1:c.10919C>G (AKAP9)	XP_011514012.1:p.Ser3640Ter
XM_011515711.1:c.10859C>G (AKAP9)	XP_011514013.1:p.Ser3620Ter
XM_011515712.1:c.10856C>G (AKAP9)	XP_011514014.1:p.Ser3619Ter
XM_011515713.1:c.10841C>G (AKAP9)	XP_011514015.1:p.Ser3614Ter
XM_011515714.1:c.10880C>G (AKAP9)	XP_011514016.1:p.Ser3627Ter
XM_011515716.1:c.10799C>G (AKAP9)	XP_011514018.1:p.Ser3600Ter
XM_011515717.1:c.10754C>G (AKAP9)	XP_011514019.1:p.Ser3585Ter
XM_011515718.1:c.10784C>G (AKAP9)	XP_011514020.1:p.Ser3595Ter
XM_011515719.1:c.10760C>G (AKAP9)	XP_011514021.1:p.Ser3587Ter
XM_011515721.1:c.5408C>G (AKAP9)	XP_011514023.1:p.Ser1803Ter
XM_011515722.1:c.5369C>G (AKAP9)	XP_011514024.1:p.Ser1790Ter
XM_017011642.2:c.10883C>G (AKAP9)	XP_016867131.1:p.Ser3628Ter
XM_017011643.2:c.10844C>G (AKAP9)	XP_016867132.1:p.Ser3615Ter
XM_017011644.2:c.10883C>G (AKAP9)	XP_016867133.1:p.Ser3628Ter
XM_017011645.2:c.10829C>G (AKAP9)	XP_016867134.1:p.Ser3610Ter
XM_017011646.2:c.10844C>G (AKAP9)	XP_016867135.1:p.Ser3615Ter
XM_017011647.2:c.10790C>G (AKAP9)	XP_016867136.1:p.Ser3597Ter
XM_017011648.2:c.10787C>G (AKAP9)	XP_016867137.1:p.Ser3596Ter
XM_017011649.2:c.10820C>G (AKAP9)	XP_016867138.1:p.Ser3607Ter
XM_017011650.2:c.10748C>G (AKAP9)	XP_016867139.1:p.Ser3583Ter
XM_017011651.2:c.10742C>G (AKAP9)	XP_016867140.1:p.Ser3581Ter
XM_017011652.2:c.10694C>G (AKAP9)	XP_016867141.1:p.Ser3565Ter
XM_017011653.2:c.10655C>G (AKAP9)	XP_016867142.1:p.Ser3552Ter
XM_017011654.2:c.10607C>G (AKAP9)	XP_016867143.1:p.Ser3536Ter
XM_017011655.2:c.10511C>G (AKAP9)	XP_016867144.1:p.Ser3504Ter
XM_017011656.2:c.10511C>G (AKAP9)	XP_016867145.1:p.Ser3504Ter
XM_017011657.2:c.6548C>G (AKAP9)	XP_016867146.1:p.Ser2183Ter
XM_017011658.2:c.5432C>G (AKAP9)	XP_016867147.1:p.Ser1811Ter
XM_017011659.2:c.5393C>G (AKAP9)	XP_016867148.1:p.Ser1798Ter
XM_017011660.2:c.5393C>G (AKAP9)	XP_016867149.1:p.Ser1798Ter
XM_024446631.1:c.10646C>G (AKAP9)	XP_024302399.1:p.Ser3549Ter
NM_147185.3:c.10724C>G (AKAP9)	NP_671714.1:p.Ser3575Ter
NM_001379277.1:c.5393C>G (AKAP9)	NP_001366206.1:p.Ser1798Ter
NM_005751.5:c.10748C>G (AKAP9) MANE Select	NP_005742.4:p.Ser3583Ter