Canonical Allele Identifier: CA368158753

Gene: CYP51A1 AKAP9

Linked Data

• MyVariant Identifiers: chr7:g.91729099A>C (hg19) ; chr7:g.92099785A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92099785A>C , CM000669.2:g.92099785A>C	GRCh38
NC_000007.13:g.91729099A>C , CM000669.1:g.91729099A>C	GRCh37
NC_000007.12:g.91567035A>C	NCBI36
NG_011623.1:g.163911A>C , LRG_331:g.163911A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691309.1:c.1352-14183T>G (CYP51A1)	ENSP00000510368.1:n.1352-14183T>G
ENST00000356239.8:c.10812A>C (AKAP9) MANE Select	ENSP00000348573.3:p.Glu3604Asp
ENST00000359028.7:c.10884A>C (AKAP9)	ENSP00000351922.4:p.Glu3628Asp
ENST00000394534.7:c.3804A>C (AKAP9)	ENSP00000378042.3:p.Glu1268Asp
ENST00000463118.2:n.160A>C (AKAP9)
ENST00000486313.2:c.300A>C (AKAP9)	ENSP00000505389.1:p.Glu100Asp
ENST00000487692.2:n.2890A>C (AKAP9)
ENST00000491695.2:c.5457A>C (AKAP9)	ENSP00000494626.2:p.Glu1819Asp
ENST00000679448.1:c.*1692A>C (AKAP9)	ENSP00000505889.1:n.*1692A>C
ENST00000679457.1:c.10788A>C (AKAP9)	ENSP00000505450.1:p.Glu3596Asp
ENST00000679474.1:n.11010A>C (AKAP9)
ENST00000679521.1:c.10758A>C (AKAP9)	ENSP00000505456.1:p.Glu3586Asp
ENST00000679821.1:c.10554A>C (AKAP9)	ENSP00000506040.1:p.Glu3518Asp
ENST00000680047.1:n.12482A>C (AKAP9)
ENST00000680072.1:c.10635A>C (AKAP9)	ENSP00000506581.1:p.Glu3545Asp
ENST00000680181.1:c.10719A>C (AKAP9)	ENSP00000505548.1:p.Glu3573Asp
ENST00000680365.1:c.4451A>C (AKAP9)	ENSP00000506019.1:n.4451A>C
ENST00000680513.1:c.10671A>C (AKAP9)	ENSP00000505284.1:p.Glu3557Asp
ENST00000680534.1:c.10851A>C (AKAP9)	ENSP00000506674.1:p.Glu3617Asp
ENST00000680766.1:c.10788A>C (AKAP9)	ENSP00000505204.1:p.Glu3596Asp
ENST00000680952.1:c.10788A>C (AKAP9)	ENSP00000506407.1:p.Glu3596Asp
ENST00000681216.1:c.4572A>C (AKAP9)	ENSP00000505551.1:n.4572A>C
ENST00000681412.1:c.10812A>C (AKAP9)	ENSP00000506486.1:p.Glu3604Asp
ENST00000681722.1:c.10788A>C (AKAP9)	ENSP00000506566.1:p.Glu3596Asp
ENST00000356239.7:c.10812A>C (AKAP9)	ENSP00000348573.3:p.Glu3604Asp
ENST00000359028.6:c.10821A>C (AKAP9)	ENSP00000351922.3:p.Glu3607Asp
ENST00000394534.6:c.4350A>C (AKAP9)	ENSP00000378042.2:p.Glu1450Asp
ENST00000463118.1:n.160A>C (AKAP9)
ENST00000487258.5:n.2562A>C (AKAP9)
ENST00000487692.1:n.612A>C (AKAP9)
NM_005751.4:c.10812A>C , LRG_331t1:c.10812A>C (AKAP9)	NP_005742.4:p.Glu3604Asp
NM_147185.2:c.10788A>C (AKAP9)	NP_671714.1:p.Glu3596Asp
XM_006715827.1:c.10671A>C (AKAP9)	XP_006715890.1:p.Glu3557Asp
XM_011515709.1:c.10959A>C (AKAP9)	XP_011514011.1:p.Glu3653Asp
XM_011515710.1:c.10983A>C (AKAP9)	XP_011514012.1:p.Glu3661Asp
XM_011515711.1:c.10923A>C (AKAP9)	XP_011514013.1:p.Glu3641Asp
XM_011515712.1:c.10920A>C (AKAP9)	XP_011514014.1:p.Glu3640Asp
XM_011515713.1:c.10905A>C (AKAP9)	XP_011514015.1:p.Glu3635Asp
XM_011515714.1:c.10944A>C (AKAP9)	XP_011514016.1:p.Glu3648Asp
XM_011515716.1:c.10863A>C (AKAP9)	XP_011514018.1:p.Glu3621Asp
XM_011515717.1:c.10818A>C (AKAP9)	XP_011514019.1:p.Glu3606Asp
XM_011515718.1:c.10848A>C (AKAP9)	XP_011514020.1:p.Glu3616Asp
XM_011515719.1:c.10824A>C (AKAP9)	XP_011514021.1:p.Glu3608Asp
XM_011515721.1:c.5472A>C (AKAP9)	XP_011514023.1:p.Glu1824Asp
XM_011515722.1:c.5433A>C (AKAP9)	XP_011514024.1:p.Glu1811Asp
XM_017011642.2:c.10947A>C (AKAP9)	XP_016867131.1:p.Glu3649Asp
XM_017011643.2:c.10908A>C (AKAP9)	XP_016867132.1:p.Glu3636Asp
XM_017011644.2:c.10947A>C (AKAP9)	XP_016867133.1:p.Glu3649Asp
XM_017011645.2:c.10893A>C (AKAP9)	XP_016867134.1:p.Glu3631Asp
XM_017011646.2:c.10908A>C (AKAP9)	XP_016867135.1:p.Glu3636Asp
XM_017011647.2:c.10854A>C (AKAP9)	XP_016867136.1:p.Glu3618Asp
XM_017011648.2:c.10851A>C (AKAP9)	XP_016867137.1:p.Glu3617Asp
XM_017011649.2:c.10884A>C (AKAP9)	XP_016867138.1:p.Glu3628Asp
XM_017011650.2:c.10812A>C (AKAP9)	XP_016867139.1:p.Glu3604Asp
XM_017011651.2:c.10806A>C (AKAP9)	XP_016867140.1:p.Glu3602Asp
XM_017011652.2:c.10758A>C (AKAP9)	XP_016867141.1:p.Glu3586Asp
XM_017011653.2:c.10719A>C (AKAP9)	XP_016867142.1:p.Glu3573Asp
XM_017011654.2:c.10671A>C (AKAP9)	XP_016867143.1:p.Glu3557Asp
XM_017011655.2:c.10575A>C (AKAP9)	XP_016867144.1:p.Glu3525Asp
XM_017011656.2:c.10575A>C (AKAP9)	XP_016867145.1:p.Glu3525Asp
XM_017011657.2:c.6612A>C (AKAP9)	XP_016867146.1:p.Glu2204Asp
XM_017011658.2:c.5496A>C (AKAP9)	XP_016867147.1:p.Glu1832Asp
XM_017011659.2:c.5457A>C (AKAP9)	XP_016867148.1:p.Glu1819Asp
XM_017011660.2:c.5457A>C (AKAP9)	XP_016867149.1:p.Glu1819Asp
XM_024446631.1:c.10710A>C (AKAP9)	XP_024302399.1:p.Glu3570Asp
NM_147185.3:c.10788A>C (AKAP9)	NP_671714.1:p.Glu3596Asp
NM_001379277.1:c.5457A>C (AKAP9)	NP_001366206.1:p.Glu1819Asp
NM_005751.5:c.10812A>C (AKAP9) MANE Select	NP_005742.4:p.Glu3604Asp