Canonical Allele Identifier: CA2245716024

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224961C= , CM000679.2:g.7224961C=	GRCh38
NC_000017.10:g.7128280C= , CM000679.1:g.7128280C=	GRCh37
NC_000017.9:g.7069004C=	NCBI36
NG_007975.1:g.10128C=
NG_008391.2:g.90G=
NG_033038.1:g.14584G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1832C= MANE Select	ENSP00000349297.5:p.Ala611=
ENST00000322910.9:c.*1787C=	ENSP00000325395.5:n.*1787C=
ENST00000350303.9:c.1766C=	ENSP00000344152.5:p.Ala589=
ENST00000356839.9:c.1832C=	ENSP00000349297.5:p.Ala611=
ENST00000542255.6:c.711C=
ENST00000543245.6:c.1901C=	ENSP00000438689.2:p.Ala634=
ENST00000578033.1:n.257C=
ENST00000578319.5:n.413C=
ENST00000578711.1:n.1457C=
ENST00000578809.5:n.404C=
ENST00000579425.5:n.948C=
ENST00000579546.1:c.567C=
ENST00000583848.5:c.198C=	ENSP00000466487.1:n.198C=
ENST00000583850.5:n.603C=
ENST00000583858.5:c.763C=
NM_000018.3:c.1832C=	NP_000009.1:p.Ala611=
NM_001033859.2:c.1766C=	NP_001029031.1:p.Ala589=
NM_001270447.1:c.1901C=	NP_001257376.1:p.Ala634=
NM_001270448.1:c.1604C=	NP_001257377.1:p.Ala535=
XM_006721516.2:c.1853C=	XP_006721579.2:p.Ala618=
XM_011523829.1:c.1751C=	XP_011522131.1:p.Ala584=
XM_011523830.1:c.1730C=	XP_011522132.1:p.Ala577=
XR_934021.1:n.1935C=
XR_934022.1:n.1841C=
XR_934023.1:n.1862C=
XM_006721516.3:c.1853C=	XP_006721579.2:p.Ala618=
XM_011523829.2:c.1751C=	XP_011522131.1:p.Ala584=
XM_011523830.2:c.1730C=	XP_011522132.1:p.Ala577=
XM_024450741.1:c.1820C=	XP_024306509.1:p.Ala607=
XR_934021.2:n.1887C=
XR_934022.2:n.1793C=
XR_934023.2:n.1814C=
NM_000018.4:c.1832C= MANE Select	NP_000009.1:p.Ala611=
NM_001033859.3:c.1766C=	NP_001029031.1:p.Ala589=
NM_001270447.2:c.1901C=	NP_001257376.1:p.Ala634=
NM_001270448.2:c.1604C=	NP_001257377.1:p.Ala535=