Canonical Allele Identifier: CA2245715273

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224721A= , CM000679.2:g.7224721A=	GRCh38
NC_000017.10:g.7128040A= , CM000679.1:g.7128040A=	GRCh37
NC_000017.9:g.7068764A=	NCBI36
NG_007975.1:g.9888A=
NG_008391.2:g.330T=
NG_033038.1:g.14824T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1751+7A= MANE Select	ENSP00000349297.5:n.1751+7A=
ENST00000322910.9:c.*1706+7A=	ENSP00000325395.5:n.*1706+7A=
ENST00000350303.9:c.1685+7A=	ENSP00000344152.5:n.1685+7A=
ENST00000356839.9:c.1751+7A=	ENSP00000349297.5:n.1751+7A=
ENST00000542255.6:c.543A=
ENST00000543245.6:c.1820+7A=	ENSP00000438689.2:n.1820+7A=
ENST00000578033.1:n.89A=
ENST00000578319.5:n.332+7A=
ENST00000578711.1:n.1217A=
ENST00000578809.5:n.323+7A=
ENST00000579425.5:n.867+7A=
ENST00000579546.1:c.486+7A=
ENST00000583074.5:n.306A=
ENST00000583848.5:c.117+7A=	ENSP00000466487.1:n.117+7A=
ENST00000583850.5:n.522+7A=
ENST00000583858.5:c.682+7A=
ENST00000585203.6:n.942+7A=
NM_000018.3:c.1751+7A=	NP_000009.1:n.1751+7A=
NM_001033859.2:c.1685+7A=	NP_001029031.1:n.1685+7A=
NM_001270447.1:c.1820+7A=	NP_001257376.1:n.1820+7A=
NM_001270448.1:c.1523+7A=	NP_001257377.1:n.1523+7A=
XM_006721516.2:c.1685A=	XP_006721579.2:p.Glu562=
XM_011523829.1:c.1583A=	XP_011522131.1:p.Glu528=
XM_011523830.1:c.1649+7A=	XP_011522132.1:n.1649+7A=
XR_934021.1:n.1854+7A=
XR_934022.1:n.1760+7A=
XR_934023.1:n.1694A=
XM_006721516.3:c.1685A=	XP_006721579.2:p.Glu562=
XM_011523829.2:c.1583A=	XP_011522131.1:p.Glu528=
XM_011523830.2:c.1649+7A=	XP_011522132.1:n.1649+7A=
XM_024450741.1:c.1739+7A=	XP_024306509.1:n.1739+7A=
XR_934021.2:n.1806+7A=
XR_934022.2:n.1712+7A=
XR_934023.2:n.1646A=
NM_000018.4:c.1751+7A= MANE Select	NP_000009.1:n.1751+7A=
NM_001033859.3:c.1685+7A=	NP_001029031.1:n.1685+7A=
NM_001270447.2:c.1820+7A=	NP_001257376.1:n.1820+7A=
NM_001270448.2:c.1523+7A=	NP_001257377.1:n.1523+7A=