Canonical Allele Identifier: CA2245700904

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222011A= , CM000679.2:g.7222011A=	GRCh38
NC_000017.10:g.7125330A= , CM000679.1:g.7125330A=	GRCh37
NC_000017.9:g.7066054A=	NCBI36
NG_007975.1:g.7178A=
NG_008391.2:g.3040T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.682A= MANE Select	ENSP00000349297.5:p.Ile228=
ENST00000322910.9:c.*637A=	ENSP00000325395.5:n.*637A=
ENST00000350303.9:c.616A=	ENSP00000344152.5:p.Ile206=
ENST00000356839.9:c.682A=	ENSP00000349297.5:p.Ile228=
ENST00000543245.6:c.751A=	ENSP00000438689.2:p.Ile251=
ENST00000577191.5:n.759A=
ENST00000577857.5:n.498A=
ENST00000579286.5:n.863A=
ENST00000580365.1:n.413A=
ENST00000581378.5:c.400A=
ENST00000582379.1:n.66A=
ENST00000583760.1:n.464A=
NM_000018.3:c.682A=	NP_000009.1:p.Ile228=
NM_001033859.2:c.616A=	NP_001029031.1:p.Ile206=
NM_001270447.1:c.751A=	NP_001257376.1:p.Ile251=
NM_001270448.1:c.454A=	NP_001257377.1:p.Ile152=
XM_006721516.2:c.682A=	XP_006721579.2:p.Ile228=
XM_011523829.1:c.682A=	XP_011522131.1:p.Ile228=
XM_011523830.1:c.682A=	XP_011522132.1:p.Ile228=
XR_934021.1:n.789A=
XR_934022.1:n.789A=
XR_934023.1:n.789A=
XM_006721516.3:c.682A=	XP_006721579.2:p.Ile228=
XM_011523829.2:c.682A=	XP_011522131.1:p.Ile228=
XM_011523830.2:c.682A=	XP_011522132.1:p.Ile228=
XM_024450741.1:c.682A=	XP_024306509.1:p.Ile228=
XR_934021.2:n.741A=
XR_934022.2:n.741A=
XR_934023.2:n.741A=
NM_000018.4:c.682A= MANE Select	NP_000009.1:p.Ile228=
NM_001033859.3:c.616A=	NP_001029031.1:p.Ile206=
NM_001270447.2:c.751A=	NP_001257376.1:p.Ile251=
NM_001270448.2:c.454A=	NP_001257377.1:p.Ile152=