Canonical Allele Identifier: CA354441551

Gene: CFAP92 ACAD9

Linked Data

• MyVariant Identifiers: chr3:g.128631379A>G (hg19) ; chr3:g.128912536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128912536A>G , CM000665.2:g.128912536A>G	GRCh38
NC_000003.11:g.128631379A>G , CM000665.1:g.128631379A>G	GRCh37
NC_000003.10:g.130114069A>G	NCBI36
NG_017064.1:g.38047A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645291.3:c.3281-2203T>C (CFAP92) MANE Select	ENSP00000496592.2:n.3281-2203T>C
ENST00000308982.12:c.1795A>G (ACAD9) MANE Select	ENSP00000312618.7:p.Lys599Glu
ENST00000511325.2:n.2472A>G (ACAD9)
ENST00000637488.2:c.861-2203T>C (CFAP92)
ENST00000645291.2:c.3281-2203T>C (CFAP92)	ENSP00000496592.2:n.3281-2203T>C
ENST00000679399.1:c.*1966A>G (ACAD9)	ENSP00000505434.1:n.*1966A>G
ENST00000679431.1:c.*1671A>G (ACAD9)	ENSP00000506440.1:n.*1671A>G
ENST00000679613.1:c.*162A>G (ACAD9)	ENSP00000504971.1:n.*162A>G
ENST00000679715.1:c.1426A>G (ACAD9)	ENSP00000506228.1:p.Lys476Glu
ENST00000679824.1:c.*3101A>G (ACAD9)	ENSP00000505516.1:n.*3101A>G
ENST00000679990.1:n.2629A>G (ACAD9)
ENST00000680636.1:c.*8A>G (ACAD9)	ENSP00000504886.1:n.*8A>G
ENST00000680638.1:n.3840A>G (ACAD9)
ENST00000680744.1:c.*1148A>G (ACAD9)	ENSP00000505243.1:n.*1148A>G
ENST00000680764.1:c.*3199A>G (ACAD9)	ENSP00000505126.1:n.*3199A>G
ENST00000681319.1:n.2581A>G (ACAD9)
ENST00000681367.1:c.*12A>G (ACAD9)	ENSP00000505309.1:n.*12A>G
ENST00000681552.1:c.*12A>G (ACAD9)	ENSP00000505699.1:n.*12A>G
ENST00000681583.1:c.1795A>G (ACAD9)	ENSP00000506340.1:p.Lys599Glu
ENST00000681585.1:c.*414A>G (ACAD9)	ENSP00000506316.1:n.*414A>G
ENST00000681784.1:n.3063A>G (ACAD9)
ENST00000681886.1:c.*1587A>G (ACAD9)	ENSP00000506500.1:n.*1587A>G
ENST00000308982.11:c.1795A>G (ACAD9)	ENSP00000312618.7:p.Lys599Glu
ENST00000505867.5:c.*1595A>G (ACAD9)	ENSP00000425346.1:n.*1595A>G
ENST00000508239.1:c.1685-2203T>C	ENSP00000424951.1:n.1685-2203T>C
ENST00000508971.1:c.1084A>G (ACAD9)	ENSP00000422683.1:p.Lys362Glu
ENST00000511227.5:c.*1689A>G (ACAD9)	ENSP00000425226.1:n.*1689A>G
ENST00000511325.1:n.1375A>G (ACAD9)
ENST00000511438.5:c.1169-2203T>C (CFAP92)	ENSP00000426217.1:n.1169-2203T>C
ENST00000511526.5:n.1328A>G (ACAD9)
ENST00000620948.3:c.222A>G (ACAD9)	ENSP00000478191.1:p.Leu74=
NM_014049.4:c.1795A>G (ACAD9)	NP_054768.2:p.Lys599Glu
NR_033426.1:n.2173A>G (ACAD9)
XM_011512742.1:c.1426A>G (ACAD9)	XP_011511044.1:p.Lys476Glu
XM_011513047.1:c.3398-2203T>C (CFAP92)	XP_011511349.1:n.3398-2203T>C
XM_011513048.1:c.3267-2203T>C (CFAP92)	XP_011511350.1:n.3267-2203T>C
XM_011513049.1:c.3267-2207T>C (CFAP92)	XP_011511351.1:n.3267-2207T>C
XM_011513050.1:c.3323-2203T>C (CFAP92)	XP_011511352.1:n.3323-2203T>C
NM_001348520.1:c.2408-2203T>C (CFAP92)	NP_001335449.1:n.2408-2203T>C
NM_001348521.1:c.2312-2203T>C (CFAP92)	NP_001335450.1:n.2312-2203T>C
XM_011513050.2:c.3377-2203T>C (CFAP92)	XP_011511352.2:n.3377-2203T>C
XM_017006939.2:c.*2419T>C (CFAP92)	XP_016862428.1:n.*2419T>C
XM_017006940.2:c.*2419T>C (CFAP92)	XP_016862429.1:n.*2419T>C
XM_017006941.2:c.*2419T>C (CFAP92)	XP_016862430.1:n.*2419T>C
XM_017006942.2:c.*2419T>C (CFAP92)	XP_016862431.1:n.*2419T>C
XM_017006944.2:c.*2419T>C (CFAP92)	XP_016862433.1:n.*2419T>C
XM_017006945.1:c.3281-2203T>C (CFAP92)	XP_016862434.1:n.3281-2203T>C
XM_017006946.2:c.*2419T>C (CFAP92)	XP_016862435.1:n.*2419T>C
XM_017006947.2:c.5554T>C (CFAP92)	XP_016862436.1:n.5554T>C
XM_017006948.2:c.*2419T>C (CFAP92)	XP_016862437.1:n.*2419T>C
XM_017006950.2:c.*2419T>C (CFAP92)	XP_016862439.1:n.*2419T>C
XM_017006951.2:c.*2419T>C (CFAP92)	XP_016862440.1:n.*2419T>C
XM_017006952.2:c.*2419T>C (CFAP92)	XP_016862441.1:n.*2419T>C
XM_017006953.2:c.*2419T>C (CFAP92)	XP_016862442.1:n.*2419T>C
XM_017006954.1:c.1919-2203T>C (CFAP92)	XP_016862443.1:n.1919-2203T>C
XM_024453484.1:c.1426A>G (ACAD9)	XP_024309252.1:p.Lys476Glu
XM_024453485.1:c.1426A>G (ACAD9)	XP_024309253.1:p.Lys476Glu
XM_024453688.1:c.*2419T>C (CFAP92)	XP_024309456.1:n.*2419T>C
XM_024453689.1:c.*2419T>C (CFAP92)	XP_024309457.1:n.*2419T>C
XR_427367.3:n.1871A>G (ACAD9)
NM_014049.5:c.1795A>G (ACAD9) MANE Select	NP_054768.2:p.Lys599Glu
NM_001348520.2:c.2408-2203T>C (CFAP92)	NP_001335449.1:n.2408-2203T>C
NM_001348521.2:c.2312-2203T>C (CFAP92)	NP_001335450.1:n.2312-2203T>C
NM_001394090.1:c.3281-2203T>C (CFAP92) MANE Select	NP_001381019.1:n.3281-2203T>C
NR_033426.2:n.2043A>G (ACAD9)