Canonical Allele Identifier: CA2245716036

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224964C= , CM000679.2:g.7224964C=	GRCh38
NC_000017.10:g.7128283C= , CM000679.1:g.7128283C=	GRCh37
NC_000017.9:g.7069007C=	NCBI36
NG_007975.1:g.10131C=
NG_008391.2:g.87G=
NG_033038.1:g.14581G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1835C= MANE Select	ENSP00000349297.5:p.Ala612=
ENST00000322910.9:c.*1790C=	ENSP00000325395.5:n.*1790C=
ENST00000350303.9:c.1769C=	ENSP00000344152.5:p.Ala590=
ENST00000356839.9:c.1835C=	ENSP00000349297.5:p.Ala612=
ENST00000542255.6:c.714C=
ENST00000543245.6:c.1904C=	ENSP00000438689.2:p.Ala635=
ENST00000578033.1:n.260C=
ENST00000578319.5:n.416C=
ENST00000578711.1:n.1460C=
ENST00000578809.5:n.407C=
ENST00000579425.5:n.951C=
ENST00000579546.1:c.570C=
ENST00000583848.5:c.201C=	ENSP00000466487.1:n.201C=
ENST00000583850.5:n.606C=
ENST00000583858.5:c.766C=
NM_000018.3:c.1835C=	NP_000009.1:p.Ala612=
NM_001033859.2:c.1769C=	NP_001029031.1:p.Ala590=
NM_001270447.1:c.1904C=	NP_001257376.1:p.Ala635=
NM_001270448.1:c.1607C=	NP_001257377.1:p.Ala536=
XM_006721516.2:c.1856C=	XP_006721579.2:p.Ala619=
XM_011523829.1:c.1754C=	XP_011522131.1:p.Ala585=
XM_011523830.1:c.1733C=	XP_011522132.1:p.Ala578=
XR_934021.1:n.1938C=
XR_934022.1:n.1844C=
XR_934023.1:n.1865C=
XM_006721516.3:c.1856C=	XP_006721579.2:p.Ala619=
XM_011523829.2:c.1754C=	XP_011522131.1:p.Ala585=
XM_011523830.2:c.1733C=	XP_011522132.1:p.Ala578=
XM_024450741.1:c.1823C=	XP_024306509.1:p.Ala608=
XR_934021.2:n.1890C=
XR_934022.2:n.1796C=
XR_934023.2:n.1817C=
NM_000018.4:c.1835C= MANE Select	NP_000009.1:p.Ala612=
NM_001033859.3:c.1769C=	NP_001029031.1:p.Ala590=
NM_001270447.2:c.1904C=	NP_001257376.1:p.Ala635=
NM_001270448.2:c.1607C=	NP_001257377.1:p.Ala536=