Canonical Allele Identifier: CA2245716324

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225030T= , CM000679.2:g.7225030T=	GRCh38
NC_000017.10:g.7128349T= , CM000679.1:g.7128349T=	GRCh37
NC_000017.9:g.7069073T=	NCBI36
NG_007975.1:g.10197T=
NG_008391.2:g.21A=
NG_033038.1:g.14515A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1901T= MANE Select	ENSP00000349297.5:p.Phe634=
ENST00000322910.9:c.*1856T=	ENSP00000325395.5:n.*1856T=
ENST00000350303.9:c.1835T=	ENSP00000344152.5:p.Phe612=
ENST00000356839.9:c.1901T=	ENSP00000349297.5:p.Phe634=
ENST00000542255.6:c.780T=
ENST00000543245.6:c.1970T=	ENSP00000438689.2:p.Phe657=
ENST00000578033.1:n.326T=
ENST00000578319.5:n.482T=
ENST00000578711.1:n.1526T=
ENST00000578809.5:n.473T=
ENST00000579425.5:n.1017T=
ENST00000583848.5:c.267T=	ENSP00000466487.1:n.267T=
ENST00000583850.5:n.672T=
ENST00000583858.5:c.832T=
NM_000018.3:c.1901T=	NP_000009.1:p.Phe634=
NM_001033859.2:c.1835T=	NP_001029031.1:p.Phe612=
NM_001270447.1:c.1970T=	NP_001257376.1:p.Phe657=
NM_001270448.1:c.1673T=	NP_001257377.1:p.Phe558=
XM_006721516.2:c.1922T=	XP_006721579.2:p.Phe641=
XM_011523829.1:c.1820T=	XP_011522131.1:p.Phe607=
XM_011523830.1:c.1799T=	XP_011522132.1:p.Phe600=
XR_934021.1:n.2004T=
XR_934022.1:n.1910T=
XR_934023.1:n.1931T=
XM_006721516.3:c.1922T=	XP_006721579.2:p.Phe641=
XM_011523829.2:c.1820T=	XP_011522131.1:p.Phe607=
XM_011523830.2:c.1799T=	XP_011522132.1:p.Phe600=
XM_024450741.1:c.1889T=	XP_024306509.1:p.Phe630=
XR_934021.2:n.1956T=
XR_934022.2:n.1862T=
XR_934023.2:n.1883T=
NM_000018.4:c.1901T= MANE Select	NP_000009.1:p.Phe634=
NM_001033859.3:c.1835T=	NP_001029031.1:p.Phe612=
NM_001270447.2:c.1970T=	NP_001257376.1:p.Phe657=
NM_001270448.2:c.1673T=	NP_001257377.1:p.Phe558=