Canonical Allele Identifier: CA2245716101

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224977G= , CM000679.2:g.7224977G=	GRCh38
NC_000017.10:g.7128296G= , CM000679.1:g.7128296G=	GRCh37
NC_000017.9:g.7069020G=	NCBI36
NG_007975.1:g.10144G=
NG_008391.2:g.74C=
NG_033038.1:g.14568C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1848G= MANE Select	ENSP00000349297.5:p.Glu616=
ENST00000322910.9:c.*1803G=	ENSP00000325395.5:n.*1803G=
ENST00000350303.9:c.1782G=	ENSP00000344152.5:p.Glu594=
ENST00000356839.9:c.1848G=	ENSP00000349297.5:p.Glu616=
ENST00000542255.6:c.727G=
ENST00000543245.6:c.1917G=	ENSP00000438689.2:p.Glu639=
ENST00000578033.1:n.273G=
ENST00000578319.5:n.429G=
ENST00000578711.1:n.1473G=
ENST00000578809.5:n.420G=
ENST00000579425.5:n.964G=
ENST00000583848.5:c.214G=	ENSP00000466487.1:n.214G=
ENST00000583850.5:n.619G=
ENST00000583858.5:c.779G=
NM_000018.3:c.1848G=	NP_000009.1:p.Glu616=
NM_001033859.2:c.1782G=	NP_001029031.1:p.Glu594=
NM_001270447.1:c.1917G=	NP_001257376.1:p.Glu639=
NM_001270448.1:c.1620G=	NP_001257377.1:p.Glu540=
XM_006721516.2:c.1869G=	XP_006721579.2:p.Glu623=
XM_011523829.1:c.1767G=	XP_011522131.1:p.Glu589=
XM_011523830.1:c.1746G=	XP_011522132.1:p.Glu582=
XR_934021.1:n.1951G=
XR_934022.1:n.1857G=
XR_934023.1:n.1878G=
XM_006721516.3:c.1869G=	XP_006721579.2:p.Glu623=
XM_011523829.2:c.1767G=	XP_011522131.1:p.Glu589=
XM_011523830.2:c.1746G=	XP_011522132.1:p.Glu582=
XM_024450741.1:c.1836G=	XP_024306509.1:p.Glu612=
XR_934021.2:n.1903G=
XR_934022.2:n.1809G=
XR_934023.2:n.1830G=
NM_000018.4:c.1848G= MANE Select	NP_000009.1:p.Glu616=
NM_001033859.3:c.1782G=	NP_001029031.1:p.Glu594=
NM_001270447.2:c.1917G=	NP_001257376.1:p.Glu639=
NM_001270448.2:c.1620G=	NP_001257377.1:p.Glu540=