Canonical Allele Identifier: CA2245716128

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224987G= , CM000679.2:g.7224987G=	GRCh38
NC_000017.10:g.7128306G= , CM000679.1:g.7128306G=	GRCh37
NC_000017.9:g.7069030G=	NCBI36
NG_007975.1:g.10154G=
NG_008391.2:g.64C=
NG_033038.1:g.14558C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1858G= MANE Select	ENSP00000349297.5:p.Ala620=
ENST00000322910.9:c.*1813G=	ENSP00000325395.5:n.*1813G=
ENST00000350303.9:c.1792G=	ENSP00000344152.5:p.Ala598=
ENST00000356839.9:c.1858G=	ENSP00000349297.5:p.Ala620=
ENST00000542255.6:c.737G=
ENST00000543245.6:c.1927G=	ENSP00000438689.2:p.Ala643=
ENST00000578033.1:n.283G=
ENST00000578319.5:n.439G=
ENST00000578711.1:n.1483G=
ENST00000578809.5:n.430G=
ENST00000579425.5:n.974G=
ENST00000583848.5:c.224G=	ENSP00000466487.1:n.224G=
ENST00000583850.5:n.629G=
ENST00000583858.5:c.789G=
NM_000018.3:c.1858G=	NP_000009.1:p.Ala620=
NM_001033859.2:c.1792G=	NP_001029031.1:p.Ala598=
NM_001270447.1:c.1927G=	NP_001257376.1:p.Ala643=
NM_001270448.1:c.1630G=	NP_001257377.1:p.Ala544=
XM_006721516.2:c.1879G=	XP_006721579.2:p.Ala627=
XM_011523829.1:c.1777G=	XP_011522131.1:p.Ala593=
XM_011523830.1:c.1756G=	XP_011522132.1:p.Ala586=
XR_934021.1:n.1961G=
XR_934022.1:n.1867G=
XR_934023.1:n.1888G=
XM_006721516.3:c.1879G=	XP_006721579.2:p.Ala627=
XM_011523829.2:c.1777G=	XP_011522131.1:p.Ala593=
XM_011523830.2:c.1756G=	XP_011522132.1:p.Ala586=
XM_024450741.1:c.1846G=	XP_024306509.1:p.Ala616=
XR_934021.2:n.1913G=
XR_934022.2:n.1819G=
XR_934023.2:n.1840G=
NM_000018.4:c.1858G= MANE Select	NP_000009.1:p.Ala620=
NM_001033859.3:c.1792G=	NP_001029031.1:p.Ala598=
NM_001270447.2:c.1927G=	NP_001257376.1:p.Ala643=
NM_001270448.2:c.1630G=	NP_001257377.1:p.Ala544=