Canonical Allele Identifier: CA2245716331

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225031C= , CM000679.2:g.7225031C=	GRCh38
NC_000017.10:g.7128350C= , CM000679.1:g.7128350C=	GRCh37
NC_000017.9:g.7069074C=	NCBI36
NG_007975.1:g.10198C=
NG_008391.2:g.20G=
NG_033038.1:g.14514G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1902C= MANE Select	ENSP00000349297.5:p.Phe634=
ENST00000322910.9:c.*1857C=	ENSP00000325395.5:n.*1857C=
ENST00000350303.9:c.1836C=	ENSP00000344152.5:p.Phe612=
ENST00000356839.9:c.1902C=	ENSP00000349297.5:p.Phe634=
ENST00000542255.6:c.781C=
ENST00000543245.6:c.1971C=	ENSP00000438689.2:p.Phe657=
ENST00000578033.1:n.327C=
ENST00000578319.5:n.483C=
ENST00000578711.1:n.1527C=
ENST00000578809.5:n.474C=
ENST00000579425.5:n.1018C=
ENST00000583848.5:c.268C=	ENSP00000466487.1:n.268C=
ENST00000583850.5:n.673C=
ENST00000583858.5:c.833C=
NM_000018.3:c.1902C=	NP_000009.1:p.Phe634=
NM_001033859.2:c.1836C=	NP_001029031.1:p.Phe612=
NM_001270447.1:c.1971C=	NP_001257376.1:p.Phe657=
NM_001270448.1:c.1674C=	NP_001257377.1:p.Phe558=
XM_006721516.2:c.1923C=	XP_006721579.2:p.Phe641=
XM_011523829.1:c.1821C=	XP_011522131.1:p.Phe607=
XM_011523830.1:c.1800C=	XP_011522132.1:p.Phe600=
XR_934021.1:n.2005C=
XR_934022.1:n.1911C=
XR_934023.1:n.1932C=
XM_006721516.3:c.1923C=	XP_006721579.2:p.Phe641=
XM_011523829.2:c.1821C=	XP_011522131.1:p.Phe607=
XM_011523830.2:c.1800C=	XP_011522132.1:p.Phe600=
XM_024450741.1:c.1890C=	XP_024306509.1:p.Phe630=
XR_934021.2:n.1957C=
XR_934022.2:n.1863C=
XR_934023.2:n.1884C=
NM_000018.4:c.1902C= MANE Select	NP_000009.1:p.Phe634=
NM_001033859.3:c.1836C=	NP_001029031.1:p.Phe612=
NM_001270447.2:c.1971C=	NP_001257376.1:p.Phe657=
NM_001270448.2:c.1674C=	NP_001257377.1:p.Phe558=