Canonical Allele Identifier: CA368158924

Gene: CYP51A1 AKAP9

Linked Data

• gnomAD v4: 7-92099827-G-C
• MyVariant Identifiers: chr7:g.91729141G>C (hg19) ; chr7:g.92099827G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92099827G>C , CM000669.2:g.92099827G>C	GRCh38
NC_000007.13:g.91729141G>C , CM000669.1:g.91729141G>C	GRCh37
NC_000007.12:g.91567077G>C	NCBI36
NG_011623.1:g.163953G>C , LRG_331:g.163953G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691309.1:c.1352-14225C>G (CYP51A1)	ENSP00000510368.1:n.1352-14225C>G
ENST00000356239.8:c.10854G>C (AKAP9) MANE Select	ENSP00000348573.3:p.Glu3618Asp
ENST00000359028.7:c.10926G>C (AKAP9)	ENSP00000351922.4:p.Glu3642Asp
ENST00000394534.7:c.3846G>C (AKAP9)	ENSP00000378042.3:p.Glu1282Asp
ENST00000463118.2:n.202G>C (AKAP9)
ENST00000486313.2:c.342G>C (AKAP9)	ENSP00000505389.1:p.Glu114Asp
ENST00000487692.2:n.2932G>C (AKAP9)
ENST00000491695.2:c.5499G>C (AKAP9)	ENSP00000494626.2:p.Glu1833Asp
ENST00000679448.1:c.*1734G>C (AKAP9)	ENSP00000505889.1:n.*1734G>C
ENST00000679457.1:c.10830G>C (AKAP9)	ENSP00000505450.1:p.Glu3610Asp
ENST00000679474.1:n.11052G>C (AKAP9)
ENST00000679521.1:c.10800G>C (AKAP9)	ENSP00000505456.1:p.Glu3600Asp
ENST00000679821.1:c.10596G>C (AKAP9)	ENSP00000506040.1:p.Glu3532Asp
ENST00000680047.1:n.12524G>C (AKAP9)
ENST00000680072.1:c.10677G>C (AKAP9)	ENSP00000506581.1:p.Glu3559Asp
ENST00000680181.1:c.10761G>C (AKAP9)	ENSP00000505548.1:p.Glu3587Asp
ENST00000680365.1:c.4493G>C (AKAP9)	ENSP00000506019.1:n.4493G>C
ENST00000680513.1:c.10713G>C (AKAP9)	ENSP00000505284.1:p.Glu3571Asp
ENST00000680534.1:c.10893G>C (AKAP9)	ENSP00000506674.1:p.Glu3631Asp
ENST00000680766.1:c.10830G>C (AKAP9)	ENSP00000505204.1:p.Glu3610Asp
ENST00000680952.1:c.10830G>C (AKAP9)	ENSP00000506407.1:p.Glu3610Asp
ENST00000681216.1:c.4614G>C (AKAP9)	ENSP00000505551.1:n.4614G>C
ENST00000681412.1:c.10854G>C (AKAP9)	ENSP00000506486.1:p.Glu3618Asp
ENST00000681722.1:c.10830G>C (AKAP9)	ENSP00000506566.1:p.Glu3610Asp
ENST00000356239.7:c.10854G>C (AKAP9)	ENSP00000348573.3:p.Glu3618Asp
ENST00000359028.6:c.10863G>C (AKAP9)	ENSP00000351922.3:p.Glu3621Asp
ENST00000394534.6:c.4392G>C (AKAP9)	ENSP00000378042.2:p.Glu1464Asp
ENST00000463118.1:n.202G>C (AKAP9)
ENST00000487258.5:n.2604G>C (AKAP9)
ENST00000487692.1:n.654G>C (AKAP9)
NM_005751.4:c.10854G>C , LRG_331t1:c.10854G>C (AKAP9)	NP_005742.4:p.Glu3618Asp
NM_147185.2:c.10830G>C (AKAP9)	NP_671714.1:p.Glu3610Asp
XM_006715827.1:c.10713G>C (AKAP9)	XP_006715890.1:p.Glu3571Asp
XM_011515709.1:c.11001G>C (AKAP9)	XP_011514011.1:p.Glu3667Asp
XM_011515710.1:c.11025G>C (AKAP9)	XP_011514012.1:p.Glu3675Asp
XM_011515711.1:c.10965G>C (AKAP9)	XP_011514013.1:p.Glu3655Asp
XM_011515712.1:c.10962G>C (AKAP9)	XP_011514014.1:p.Glu3654Asp
XM_011515713.1:c.10947G>C (AKAP9)	XP_011514015.1:p.Glu3649Asp
XM_011515714.1:c.10986G>C (AKAP9)	XP_011514016.1:p.Glu3662Asp
XM_011515716.1:c.10905G>C (AKAP9)	XP_011514018.1:p.Glu3635Asp
XM_011515717.1:c.10860G>C (AKAP9)	XP_011514019.1:p.Glu3620Asp
XM_011515718.1:c.10890G>C (AKAP9)	XP_011514020.1:p.Glu3630Asp
XM_011515719.1:c.10866G>C (AKAP9)	XP_011514021.1:p.Glu3622Asp
XM_011515721.1:c.5514G>C (AKAP9)	XP_011514023.1:p.Glu1838Asp
XM_011515722.1:c.5475G>C (AKAP9)	XP_011514024.1:p.Glu1825Asp
XM_017011642.2:c.10989G>C (AKAP9)	XP_016867131.1:p.Glu3663Asp
XM_017011643.2:c.10950G>C (AKAP9)	XP_016867132.1:p.Glu3650Asp
XM_017011644.2:c.10989G>C (AKAP9)	XP_016867133.1:p.Glu3663Asp
XM_017011645.2:c.10935G>C (AKAP9)	XP_016867134.1:p.Glu3645Asp
XM_017011646.2:c.10950G>C (AKAP9)	XP_016867135.1:p.Glu3650Asp
XM_017011647.2:c.10896G>C (AKAP9)	XP_016867136.1:p.Glu3632Asp
XM_017011648.2:c.10893G>C (AKAP9)	XP_016867137.1:p.Glu3631Asp
XM_017011649.2:c.10926G>C (AKAP9)	XP_016867138.1:p.Glu3642Asp
XM_017011650.2:c.10854G>C (AKAP9)	XP_016867139.1:p.Glu3618Asp
XM_017011651.2:c.10848G>C (AKAP9)	XP_016867140.1:p.Glu3616Asp
XM_017011652.2:c.10800G>C (AKAP9)	XP_016867141.1:p.Glu3600Asp
XM_017011653.2:c.10761G>C (AKAP9)	XP_016867142.1:p.Glu3587Asp
XM_017011654.2:c.10713G>C (AKAP9)	XP_016867143.1:p.Glu3571Asp
XM_017011655.2:c.10617G>C (AKAP9)	XP_016867144.1:p.Glu3539Asp
XM_017011656.2:c.10617G>C (AKAP9)	XP_016867145.1:p.Glu3539Asp
XM_017011657.2:c.6654G>C (AKAP9)	XP_016867146.1:p.Glu2218Asp
XM_017011658.2:c.5538G>C (AKAP9)	XP_016867147.1:p.Glu1846Asp
XM_017011659.2:c.5499G>C (AKAP9)	XP_016867148.1:p.Glu1833Asp
XM_017011660.2:c.5499G>C (AKAP9)	XP_016867149.1:p.Glu1833Asp
XM_024446631.1:c.10752G>C (AKAP9)	XP_024302399.1:p.Glu3584Asp
NM_147185.3:c.10830G>C (AKAP9)	NP_671714.1:p.Glu3610Asp
NM_001379277.1:c.5499G>C (AKAP9)	NP_001366206.1:p.Glu1833Asp
NM_005751.5:c.10854G>C (AKAP9) MANE Select	NP_005742.4:p.Glu3618Asp