Canonical Allele Identifier: CA2245716068

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224968G= , CM000679.2:g.7224968G=	GRCh38
NC_000017.10:g.7128287G= , CM000679.1:g.7128287G=	GRCh37
NC_000017.9:g.7069011G=	NCBI36
NG_007975.1:g.10135G=
NG_008391.2:g.83C=
NG_033038.1:g.14577C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1839G= MANE Select	ENSP00000349297.5:p.Arg613=
ENST00000322910.9:c.*1794G=	ENSP00000325395.5:n.*1794G=
ENST00000350303.9:c.1773G=	ENSP00000344152.5:p.Arg591=
ENST00000356839.9:c.1839G=	ENSP00000349297.5:p.Arg613=
ENST00000542255.6:c.718G=
ENST00000543245.6:c.1908G=	ENSP00000438689.2:p.Arg636=
ENST00000578033.1:n.264G=
ENST00000578319.5:n.420G=
ENST00000578711.1:n.1464G=
ENST00000578809.5:n.411G=
ENST00000579425.5:n.955G=
ENST00000579546.1:c.574G=
ENST00000583848.5:c.205G=	ENSP00000466487.1:n.205G=
ENST00000583850.5:n.610G=
ENST00000583858.5:c.770G=
NM_000018.3:c.1839G=	NP_000009.1:p.Arg613=
NM_001033859.2:c.1773G=	NP_001029031.1:p.Arg591=
NM_001270447.1:c.1908G=	NP_001257376.1:p.Arg636=
NM_001270448.1:c.1611G=	NP_001257377.1:p.Arg537=
XM_006721516.2:c.1860G=	XP_006721579.2:p.Arg620=
XM_011523829.1:c.1758G=	XP_011522131.1:p.Arg586=
XM_011523830.1:c.1737G=	XP_011522132.1:p.Arg579=
XR_934021.1:n.1942G=
XR_934022.1:n.1848G=
XR_934023.1:n.1869G=
XM_006721516.3:c.1860G=	XP_006721579.2:p.Arg620=
XM_011523829.2:c.1758G=	XP_011522131.1:p.Arg586=
XM_011523830.2:c.1737G=	XP_011522132.1:p.Arg579=
XM_024450741.1:c.1827G=	XP_024306509.1:p.Arg609=
XR_934021.2:n.1894G=
XR_934022.2:n.1800G=
XR_934023.2:n.1821G=
NM_000018.4:c.1839G= MANE Select	NP_000009.1:p.Arg613=
NM_001033859.3:c.1773G=	NP_001029031.1:p.Arg591=
NM_001270447.2:c.1908G=	NP_001257376.1:p.Arg636=
NM_001270448.2:c.1611G=	NP_001257377.1:p.Arg537=