Canonical Allele Identifier: CA368158635

Gene: CYP51A1 AKAP9

Linked Data

• MyVariant Identifiers: chr7:g.91729076G>T (hg19) ; chr7:g.92099762G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92099762G>T , CM000669.2:g.92099762G>T	GRCh38
NC_000007.13:g.91729076G>T , CM000669.1:g.91729076G>T	GRCh37
NC_000007.12:g.91567012G>T	NCBI36
NG_011623.1:g.163888G>T , LRG_331:g.163888G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691309.1:c.1352-14160C>A (CYP51A1)	ENSP00000510368.1:n.1352-14160C>A
ENST00000356239.8:c.10789G>T (AKAP9) MANE Select	ENSP00000348573.3:p.Gly3597Trp
ENST00000359028.7:c.10861G>T (AKAP9)	ENSP00000351922.4:p.Gly3621Trp
ENST00000394534.7:c.3781G>T (AKAP9)	ENSP00000378042.3:p.Gly1261Trp
ENST00000463118.2:n.137G>T (AKAP9)
ENST00000486313.2:c.277G>T (AKAP9)	ENSP00000505389.1:p.Gly93Trp
ENST00000487692.2:n.2867G>T (AKAP9)
ENST00000491695.2:c.5434G>T (AKAP9)	ENSP00000494626.2:p.Gly1812Trp
ENST00000679448.1:c.*1669G>T (AKAP9)	ENSP00000505889.1:n.*1669G>T
ENST00000679457.1:c.10765G>T (AKAP9)	ENSP00000505450.1:p.Gly3589Trp
ENST00000679474.1:n.10987G>T (AKAP9)
ENST00000679521.1:c.10735G>T (AKAP9)	ENSP00000505456.1:p.Gly3579Trp
ENST00000679821.1:c.10531G>T (AKAP9)	ENSP00000506040.1:p.Gly3511Trp
ENST00000680047.1:n.12459G>T (AKAP9)
ENST00000680072.1:c.10612G>T (AKAP9)	ENSP00000506581.1:p.Gly3538Trp
ENST00000680181.1:c.10696G>T (AKAP9)	ENSP00000505548.1:p.Gly3566Trp
ENST00000680365.1:c.4428G>T (AKAP9)	ENSP00000506019.1:n.4428G>T
ENST00000680513.1:c.10648G>T (AKAP9)	ENSP00000505284.1:p.Gly3550Trp
ENST00000680534.1:c.10828G>T (AKAP9)	ENSP00000506674.1:p.Gly3610Trp
ENST00000680766.1:c.10765G>T (AKAP9)	ENSP00000505204.1:p.Gly3589Trp
ENST00000680952.1:c.10765G>T (AKAP9)	ENSP00000506407.1:p.Gly3589Trp
ENST00000681216.1:c.4549G>T (AKAP9)	ENSP00000505551.1:n.4549G>T
ENST00000681412.1:c.10789G>T (AKAP9)	ENSP00000506486.1:p.Gly3597Trp
ENST00000681722.1:c.10765G>T (AKAP9)	ENSP00000506566.1:p.Gly3589Trp
ENST00000356239.7:c.10789G>T (AKAP9)	ENSP00000348573.3:p.Gly3597Trp
ENST00000359028.6:c.10798G>T (AKAP9)	ENSP00000351922.3:p.Gly3600Trp
ENST00000394534.6:c.4327G>T (AKAP9)	ENSP00000378042.2:p.Gly1443Trp
ENST00000463118.1:n.137G>T (AKAP9)
ENST00000487258.5:n.2539G>T (AKAP9)
ENST00000487692.1:n.589G>T (AKAP9)
NM_005751.4:c.10789G>T , LRG_331t1:c.10789G>T (AKAP9)	NP_005742.4:p.Gly3597Trp
NM_147185.2:c.10765G>T (AKAP9)	NP_671714.1:p.Gly3589Trp
XM_006715827.1:c.10648G>T (AKAP9)	XP_006715890.1:p.Gly3550Trp
XM_011515709.1:c.10936G>T (AKAP9)	XP_011514011.1:p.Gly3646Trp
XM_011515710.1:c.10960G>T (AKAP9)	XP_011514012.1:p.Gly3654Trp
XM_011515711.1:c.10900G>T (AKAP9)	XP_011514013.1:p.Gly3634Trp
XM_011515712.1:c.10897G>T (AKAP9)	XP_011514014.1:p.Gly3633Trp
XM_011515713.1:c.10882G>T (AKAP9)	XP_011514015.1:p.Gly3628Trp
XM_011515714.1:c.10921G>T (AKAP9)	XP_011514016.1:p.Gly3641Trp
XM_011515716.1:c.10840G>T (AKAP9)	XP_011514018.1:p.Gly3614Trp
XM_011515717.1:c.10795G>T (AKAP9)	XP_011514019.1:p.Gly3599Trp
XM_011515718.1:c.10825G>T (AKAP9)	XP_011514020.1:p.Gly3609Trp
XM_011515719.1:c.10801G>T (AKAP9)	XP_011514021.1:p.Gly3601Trp
XM_011515721.1:c.5449G>T (AKAP9)	XP_011514023.1:p.Gly1817Trp
XM_011515722.1:c.5410G>T (AKAP9)	XP_011514024.1:p.Gly1804Trp
XM_017011642.2:c.10924G>T (AKAP9)	XP_016867131.1:p.Gly3642Trp
XM_017011643.2:c.10885G>T (AKAP9)	XP_016867132.1:p.Gly3629Trp
XM_017011644.2:c.10924G>T (AKAP9)	XP_016867133.1:p.Gly3642Trp
XM_017011645.2:c.10870G>T (AKAP9)	XP_016867134.1:p.Gly3624Trp
XM_017011646.2:c.10885G>T (AKAP9)	XP_016867135.1:p.Gly3629Trp
XM_017011647.2:c.10831G>T (AKAP9)	XP_016867136.1:p.Gly3611Trp
XM_017011648.2:c.10828G>T (AKAP9)	XP_016867137.1:p.Gly3610Trp
XM_017011649.2:c.10861G>T (AKAP9)	XP_016867138.1:p.Gly3621Trp
XM_017011650.2:c.10789G>T (AKAP9)	XP_016867139.1:p.Gly3597Trp
XM_017011651.2:c.10783G>T (AKAP9)	XP_016867140.1:p.Gly3595Trp
XM_017011652.2:c.10735G>T (AKAP9)	XP_016867141.1:p.Gly3579Trp
XM_017011653.2:c.10696G>T (AKAP9)	XP_016867142.1:p.Gly3566Trp
XM_017011654.2:c.10648G>T (AKAP9)	XP_016867143.1:p.Gly3550Trp
XM_017011655.2:c.10552G>T (AKAP9)	XP_016867144.1:p.Gly3518Trp
XM_017011656.2:c.10552G>T (AKAP9)	XP_016867145.1:p.Gly3518Trp
XM_017011657.2:c.6589G>T (AKAP9)	XP_016867146.1:p.Gly2197Trp
XM_017011658.2:c.5473G>T (AKAP9)	XP_016867147.1:p.Gly1825Trp
XM_017011659.2:c.5434G>T (AKAP9)	XP_016867148.1:p.Gly1812Trp
XM_017011660.2:c.5434G>T (AKAP9)	XP_016867149.1:p.Gly1812Trp
XM_024446631.1:c.10687G>T (AKAP9)	XP_024302399.1:p.Gly3563Trp
NM_147185.3:c.10765G>T (AKAP9)	NP_671714.1:p.Gly3589Trp
NM_001379277.1:c.5434G>T (AKAP9)	NP_001366206.1:p.Gly1812Trp
NM_005751.5:c.10789G>T (AKAP9) MANE Select	NP_005742.4:p.Gly3597Trp