Canonical Allele Identifier: CA2245712489

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223984G= , CM000679.2:g.7223984G=	GRCh38
NC_000017.10:g.7127303G= , CM000679.1:g.7127303G=	GRCh37
NC_000017.9:g.7068027G=	NCBI36
NG_007975.1:g.9151G=
NG_008391.2:g.1067C=
NG_033038.1:g.15561C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1349G= MANE Select	ENSP00000349297.5:p.Arg450=
ENST00000322910.9:c.*1304G=	ENSP00000325395.5:n.*1304G=
ENST00000350303.9:c.1283G=	ENSP00000344152.5:p.Arg428=
ENST00000356839.9:c.1349G=	ENSP00000349297.5:p.Arg450=
ENST00000542255.6:c.207G=
ENST00000543245.6:c.1418G=	ENSP00000438689.2:p.Arg473=
ENST00000578711.1:n.480G=
ENST00000579425.5:n.465G=
ENST00000579546.1:c.186G=
ENST00000579894.5:n.60G=
ENST00000583074.5:n.68G=
ENST00000583850.5:n.124G=
ENST00000583858.5:c.378G=
ENST00000585203.6:n.540G=
NM_000018.3:c.1349G=	NP_000009.1:p.Arg450=
NM_001033859.2:c.1283G=	NP_001029031.1:p.Arg428=
NM_001270447.1:c.1418G=	NP_001257376.1:p.Arg473=
NM_001270448.1:c.1121G=	NP_001257377.1:p.Arg374=
XM_006721516.2:c.1349G=	XP_006721579.2:p.Arg450=
XM_011523829.1:c.1349G=	XP_011522131.1:p.Arg450=
XM_011523830.1:c.1349G=	XP_011522132.1:p.Arg450=
XR_934021.1:n.1456G=
XR_934022.1:n.1456G=
XR_934023.1:n.1456G=
XM_006721516.3:c.1349G=	XP_006721579.2:p.Arg450=
XM_011523829.2:c.1349G=	XP_011522131.1:p.Arg450=
XM_011523830.2:c.1349G=	XP_011522132.1:p.Arg450=
XM_024450741.1:c.1349G=	XP_024306509.1:p.Arg450=
XR_934021.2:n.1408G=
XR_934022.2:n.1408G=
XR_934023.2:n.1408G=
NM_000018.4:c.1349G= MANE Select	NP_000009.1:p.Arg450=
NM_001033859.3:c.1283G=	NP_001029031.1:p.Arg428=
NM_001270447.2:c.1418G=	NP_001257376.1:p.Arg473=
NM_001270448.2:c.1121G=	NP_001257377.1:p.Arg374=