Canonical Allele Identifier: CA2245715789

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224871C= , CM000679.2:g.7224871C=	GRCh38
NC_000017.10:g.7128190C= , CM000679.1:g.7128190C=	GRCh37
NC_000017.9:g.7068914C=	NCBI36
NG_007975.1:g.10038C=
NG_008391.2:g.180G=
NG_033038.1:g.14674G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1814C= MANE Select	ENSP00000349297.5:p.Thr605=
ENST00000322910.9:c.*1769C=	ENSP00000325395.5:n.*1769C=
ENST00000350303.9:c.1748C=	ENSP00000344152.5:p.Thr583=
ENST00000356839.9:c.1814C=	ENSP00000349297.5:p.Thr605=
ENST00000542255.6:c.693C=
ENST00000543245.6:c.1883C=	ENSP00000438689.2:p.Thr628=
ENST00000578033.1:n.239C=
ENST00000578319.5:n.395C=
ENST00000578711.1:n.1367C=
ENST00000578809.5:n.386C=
ENST00000579425.5:n.930C=
ENST00000579546.1:c.549C=
ENST00000583848.5:c.180C=	ENSP00000466487.1:n.180C=
ENST00000583850.5:n.585C=
ENST00000583858.5:c.745C=
NM_000018.3:c.1814C=	NP_000009.1:p.Thr605=
NM_001033859.2:c.1748C=	NP_001029031.1:p.Thr583=
NM_001270447.1:c.1883C=	NP_001257376.1:p.Thr628=
NM_001270448.1:c.1586C=	NP_001257377.1:p.Thr529=
XM_006721516.2:c.1835C=	XP_006721579.2:p.Thr612=
XM_011523829.1:c.1733C=	XP_011522131.1:p.Thr578=
XM_011523830.1:c.1712C=	XP_011522132.1:p.Thr571=
XR_934021.1:n.1917C=
XR_934022.1:n.1823C=
XR_934023.1:n.1844C=
XM_006721516.3:c.1835C=	XP_006721579.2:p.Thr612=
XM_011523829.2:c.1733C=	XP_011522131.1:p.Thr578=
XM_011523830.2:c.1712C=	XP_011522132.1:p.Thr571=
XM_024450741.1:c.1802C=	XP_024306509.1:p.Thr601=
XR_934021.2:n.1869C=
XR_934022.2:n.1775C=
XR_934023.2:n.1796C=
NM_000018.4:c.1814C= MANE Select	NP_000009.1:p.Thr605=
NM_001033859.3:c.1748C=	NP_001029031.1:p.Thr583=
NM_001270447.2:c.1883C=	NP_001257376.1:p.Thr628=
NM_001270448.2:c.1586C=	NP_001257377.1:p.Thr529=