Canonical Allele Identifier: CA354439318

Gene: CFAP92 ACAD9

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128910077G>A , CM000665.2:g.128910077G>A	GRCh38
NC_000003.11:g.128628920G>A , CM000665.1:g.128628920G>A	GRCh37
NC_000003.10:g.130111610G>A	NCBI36
NG_017064.1:g.35588G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001394090.1:c.*222C>T (CFAP92) MANE Select	NP_001381019.1:n.*222C>T
NM_014049.5:c.1620G>A (ACAD9) MANE Select	NP_054768.2:p.Leu540=
ENST00000308982.12:c.1620G>A (ACAD9) MANE Select	ENSP00000312618.7:p.Leu540=
ENST00000645291.3:c.*222C>T (CFAP92) MANE Select	ENSP00000496592.2:n.*222C>T
NM_001348520.1:c.*222C>T (CFAP92)	NP_001335449.1:n.*222C>T
NM_001348520.2:c.*222C>T (CFAP92)	NP_001335449.1:n.*222C>T
NM_001348521.1:c.*222C>T (CFAP92)	NP_001335450.1:n.*222C>T
NM_001348521.2:c.*222C>T (CFAP92)	NP_001335450.1:n.*222C>T
NM_014049.4:c.1620G>A (ACAD9)	NP_054768.2:p.Leu540=
NR_033426.1:n.1998G>A (ACAD9)
NR_033426.2:n.1868G>A (ACAD9)
ENST00000308982.11:c.1620G>A (ACAD9)	ENSP00000312618.7:p.Leu540=
ENST00000505867.5:c.*1420G>A (ACAD9)	ENSP00000425346.1:n.*1420G>A
ENST00000508239.1:c.*222C>T	ENSP00000424951.1:n.*222C>T
ENST00000508971.1:c.909G>A (ACAD9)	ENSP00000422683.1:p.Leu303=
ENST00000511227.5:c.*1514G>A (ACAD9)	ENSP00000425226.1:n.*1514G>A
ENST00000511325.1:n.1200G>A (ACAD9)
ENST00000511325.2:n.2297G>A (ACAD9)
ENST00000511438.5:c.*222C>T (CFAP92)	ENSP00000426217.1:n.*222C>T
ENST00000511526.5:n.1153G>A (ACAD9)
ENST00000620948.3:c.49G>A (ACAD9)	ENSP00000478191.1:p.Val17Ile
ENST00000645291.2:c.*222C>T (CFAP92)	ENSP00000496592.2:n.*222C>T
ENST00000679399.1:c.*1791G>A (ACAD9)	ENSP00000505434.1:n.*1791G>A
ENST00000679431.1:c.*1496G>A (ACAD9)	ENSP00000506440.1:n.*1496G>A
ENST00000679613.1:c.1620G>A (ACAD9)	ENSP00000504971.1:p.Leu540=
ENST00000679715.1:c.1251G>A (ACAD9)	ENSP00000506228.1:p.Leu417=
ENST00000679824.1:c.*2926G>A (ACAD9)	ENSP00000505516.1:n.*2926G>A
ENST00000679990.1:n.2454G>A (ACAD9)
ENST00000680636.1:c.1714G>A (ACAD9)	ENSP00000504886.1:p.Val572Ile
ENST00000680638.1:n.1972G>A (ACAD9)
ENST00000680744.1:c.*973G>A (ACAD9)	ENSP00000505243.1:n.*973G>A
ENST00000680764.1:c.*3024G>A (ACAD9)	ENSP00000505126.1:n.*3024G>A
ENST00000681319.1:n.2406G>A (ACAD9)
ENST00000681367.1:c.1620G>A (ACAD9)	ENSP00000505309.1:p.Leu540=
ENST00000681552.1:c.1150-2430G>A (ACAD9)	ENSP00000505699.1:n.1150-2430G>A
ENST00000681583.1:c.1620G>A (ACAD9)	ENSP00000506340.1:p.Leu540=
ENST00000681585.1:c.*239G>A (ACAD9)	ENSP00000506316.1:n.*239G>A
ENST00000681784.1:n.2297G>A (ACAD9)
ENST00000681886.1:c.*1412G>A (ACAD9)	ENSP00000506500.1:n.*1412G>A
XM_011512742.1:c.1251G>A (ACAD9)	XP_011511044.1:p.Leu417=
XM_024453484.1:c.1251G>A (ACAD9)	XP_024309252.1:p.Leu417=
XM_024453485.1:c.1251G>A (ACAD9)	XP_024309253.1:p.Leu417=
XR_427367.3:n.1696G>A (ACAD9)