Canonical Allele Identifier: CA2245716013

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224960G= , CM000679.2:g.7224960G=	GRCh38
NC_000017.10:g.7128279G= , CM000679.1:g.7128279G=	GRCh37
NC_000017.9:g.7069003G=	NCBI36
NG_007975.1:g.10127G=
NG_008391.2:g.91C=
NG_033038.1:g.14585C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1831G= MANE Select	ENSP00000349297.5:p.Ala611=
ENST00000322910.9:c.*1786G=	ENSP00000325395.5:n.*1786G=
ENST00000350303.9:c.1765G=	ENSP00000344152.5:p.Ala589=
ENST00000356839.9:c.1831G=	ENSP00000349297.5:p.Ala611=
ENST00000542255.6:c.710G=
ENST00000543245.6:c.1900G=	ENSP00000438689.2:p.Ala634=
ENST00000578033.1:n.256G=
ENST00000578319.5:n.412G=
ENST00000578711.1:n.1456G=
ENST00000578809.5:n.403G=
ENST00000579425.5:n.947G=
ENST00000579546.1:c.566G=
ENST00000583848.5:c.197G=	ENSP00000466487.1:n.197G=
ENST00000583850.5:n.602G=
ENST00000583858.5:c.762G=
NM_000018.3:c.1831G=	NP_000009.1:p.Ala611=
NM_001033859.2:c.1765G=	NP_001029031.1:p.Ala589=
NM_001270447.1:c.1900G=	NP_001257376.1:p.Ala634=
NM_001270448.1:c.1603G=	NP_001257377.1:p.Ala535=
XM_006721516.2:c.1852G=	XP_006721579.2:p.Ala618=
XM_011523829.1:c.1750G=	XP_011522131.1:p.Ala584=
XM_011523830.1:c.1729G=	XP_011522132.1:p.Ala577=
XR_934021.1:n.1934G=
XR_934022.1:n.1840G=
XR_934023.1:n.1861G=
XM_006721516.3:c.1852G=	XP_006721579.2:p.Ala618=
XM_011523829.2:c.1750G=	XP_011522131.1:p.Ala584=
XM_011523830.2:c.1729G=	XP_011522132.1:p.Ala577=
XM_024450741.1:c.1819G=	XP_024306509.1:p.Ala607=
XR_934021.2:n.1886G=
XR_934022.2:n.1792G=
XR_934023.2:n.1813G=
NM_000018.4:c.1831G= MANE Select	NP_000009.1:p.Ala611=
NM_001033859.3:c.1765G=	NP_001029031.1:p.Ala589=
NM_001270447.2:c.1900G=	NP_001257376.1:p.Ala634=
NM_001270448.2:c.1603G=	NP_001257377.1:p.Ala535=