Canonical Allele Identifier: CA2245716133

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224988C= , CM000679.2:g.7224988C=	GRCh38
NC_000017.10:g.7128307C= , CM000679.1:g.7128307C=	GRCh37
NC_000017.9:g.7069031C=	NCBI36
NG_007975.1:g.10155C=
NG_008391.2:g.63G=
NG_033038.1:g.14557G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1859C= MANE Select	ENSP00000349297.5:p.Ala620=
ENST00000322910.9:c.*1814C=	ENSP00000325395.5:n.*1814C=
ENST00000350303.9:c.1793C=	ENSP00000344152.5:p.Ala598=
ENST00000356839.9:c.1859C=	ENSP00000349297.5:p.Ala620=
ENST00000542255.6:c.738C=
ENST00000543245.6:c.1928C=	ENSP00000438689.2:p.Ala643=
ENST00000578033.1:n.284C=
ENST00000578319.5:n.440C=
ENST00000578711.1:n.1484C=
ENST00000578809.5:n.431C=
ENST00000579425.5:n.975C=
ENST00000583848.5:c.225C=	ENSP00000466487.1:n.225C=
ENST00000583850.5:n.630C=
ENST00000583858.5:c.790C=
NM_000018.3:c.1859C=	NP_000009.1:p.Ala620=
NM_001033859.2:c.1793C=	NP_001029031.1:p.Ala598=
NM_001270447.1:c.1928C=	NP_001257376.1:p.Ala643=
NM_001270448.1:c.1631C=	NP_001257377.1:p.Ala544=
XM_006721516.2:c.1880C=	XP_006721579.2:p.Ala627=
XM_011523829.1:c.1778C=	XP_011522131.1:p.Ala593=
XM_011523830.1:c.1757C=	XP_011522132.1:p.Ala586=
XR_934021.1:n.1962C=
XR_934022.1:n.1868C=
XR_934023.1:n.1889C=
XM_006721516.3:c.1880C=	XP_006721579.2:p.Ala627=
XM_011523829.2:c.1778C=	XP_011522131.1:p.Ala593=
XM_011523830.2:c.1757C=	XP_011522132.1:p.Ala586=
XM_024450741.1:c.1847C=	XP_024306509.1:p.Ala616=
XR_934021.2:n.1914C=
XR_934022.2:n.1820C=
XR_934023.2:n.1841C=
NM_000018.4:c.1859C= MANE Select	NP_000009.1:p.Ala620=
NM_001033859.3:c.1793C=	NP_001029031.1:p.Ala598=
NM_001270447.2:c.1928C=	NP_001257376.1:p.Ala643=
NM_001270448.2:c.1631C=	NP_001257377.1:p.Ala544=