Canonical Allele Identifier: CA354439222

Gene: CFAP92 ACAD9

Linked Data

• MyVariant Identifiers: chr3:g.128628906A>C (hg19) ; chr3:g.128910063A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128910063A>C , CM000665.2:g.128910063A>C	GRCh38
NC_000003.11:g.128628906A>C , CM000665.1:g.128628906A>C	GRCh37
NC_000003.10:g.130111596A>C	NCBI36
NG_017064.1:g.35574A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645291.3:c.*236T>G (CFAP92) MANE Select	ENSP00000496592.2:n.*236T>G
ENST00000308982.12:c.1606A>C (ACAD9) MANE Select	ENSP00000312618.7:p.Ile536Leu
ENST00000511325.2:n.2283A>C (ACAD9)
ENST00000645291.2:c.*236T>G (CFAP92)	ENSP00000496592.2:n.*236T>G
ENST00000679399.1:c.*1777A>C (ACAD9)	ENSP00000505434.1:n.*1777A>C
ENST00000679431.1:c.*1482A>C (ACAD9)	ENSP00000506440.1:n.*1482A>C
ENST00000679613.1:c.1606A>C (ACAD9)	ENSP00000504971.1:p.Ile536Leu
ENST00000679715.1:c.1237A>C (ACAD9)	ENSP00000506228.1:p.Ile413Leu
ENST00000679824.1:c.*2912A>C (ACAD9)	ENSP00000505516.1:n.*2912A>C
ENST00000679990.1:n.2440A>C (ACAD9)
ENST00000680636.1:c.1700A>C (ACAD9)	ENSP00000504886.1:p.His567Pro
ENST00000680638.1:n.1958A>C (ACAD9)
ENST00000680744.1:c.*959A>C (ACAD9)	ENSP00000505243.1:n.*959A>C
ENST00000680764.1:c.*3010A>C (ACAD9)	ENSP00000505126.1:n.*3010A>C
ENST00000681319.1:n.2392A>C (ACAD9)
ENST00000681367.1:c.1606A>C (ACAD9)	ENSP00000505309.1:p.Ile536Leu
ENST00000681552.1:c.1150-2444A>C (ACAD9)	ENSP00000505699.1:n.1150-2444A>C
ENST00000681583.1:c.1606A>C (ACAD9)	ENSP00000506340.1:p.Ile536Leu
ENST00000681585.1:c.*225A>C (ACAD9)	ENSP00000506316.1:n.*225A>C
ENST00000681784.1:n.2283A>C (ACAD9)
ENST00000681886.1:c.*1398A>C (ACAD9)	ENSP00000506500.1:n.*1398A>C
ENST00000308982.11:c.1606A>C (ACAD9)	ENSP00000312618.7:p.Ile536Leu
ENST00000505867.5:c.*1406A>C (ACAD9)	ENSP00000425346.1:n.*1406A>C
ENST00000508239.1:c.*236T>G	ENSP00000424951.1:n.*236T>G
ENST00000508971.1:c.895A>C (ACAD9)	ENSP00000422683.1:p.Ile299Leu
ENST00000511227.5:c.*1500A>C (ACAD9)	ENSP00000425226.1:n.*1500A>C
ENST00000511325.1:n.1186A>C (ACAD9)
ENST00000511438.5:c.*236T>G (CFAP92)	ENSP00000426217.1:n.*236T>G
ENST00000511526.5:n.1139A>C (ACAD9)
ENST00000620948.3:c.35A>C (ACAD9)	ENSP00000478191.1:p.His12Pro
NM_014049.4:c.1606A>C (ACAD9)	NP_054768.2:p.Ile536Leu
NR_033426.1:n.1984A>C (ACAD9)
XM_011512742.1:c.1237A>C (ACAD9)	XP_011511044.1:p.Ile413Leu
NM_001348520.1:c.*236T>G (CFAP92)	NP_001335449.1:n.*236T>G
NM_001348521.1:c.*236T>G (CFAP92)	NP_001335450.1:n.*236T>G
XM_024453484.1:c.1237A>C (ACAD9)	XP_024309252.1:p.Ile413Leu
XM_024453485.1:c.1237A>C (ACAD9)	XP_024309253.1:p.Ile413Leu
XR_427367.3:n.1682A>C (ACAD9)
NM_014049.5:c.1606A>C (ACAD9) MANE Select	NP_054768.2:p.Ile536Leu
NM_001348520.2:c.*236T>G (CFAP92)	NP_001335449.1:n.*236T>G
NM_001348521.2:c.*236T>G (CFAP92)	NP_001335450.1:n.*236T>G
NM_001394090.1:c.*236T>G (CFAP92) MANE Select	NP_001381019.1:n.*236T>G
NR_033426.2:n.1854A>C (ACAD9)