Canonical Allele Identifier: CA2245709193

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222677G= , CM000679.2:g.7222677G=	GRCh38
NC_000017.10:g.7125996G= , CM000679.1:g.7125996G=	GRCh37
NC_000017.9:g.7066720G=	NCBI36
NG_007975.1:g.7844G=
NG_008391.2:g.2374C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.889G= MANE Select	ENSP00000349297.5:p.Glu297=
ENST00000322910.9:c.*844G=	ENSP00000325395.5:n.*844G=
ENST00000350303.9:c.823G=	ENSP00000344152.5:p.Glu275=
ENST00000356839.9:c.889G=	ENSP00000349297.5:p.Glu297=
ENST00000543245.6:c.958G=	ENSP00000438689.2:p.Glu320=
ENST00000578824.5:n.38G=
ENST00000581378.5:c.607G=
ENST00000582379.1:n.273G=
NM_000018.3:c.889G=	NP_000009.1:p.Glu297=
NM_001033859.2:c.823G=	NP_001029031.1:p.Glu275=
NM_001270447.1:c.958G=	NP_001257376.1:p.Glu320=
NM_001270448.1:c.661G=	NP_001257377.1:p.Glu221=
XM_006721516.2:c.889G=	XP_006721579.2:p.Glu297=
XM_011523829.1:c.889G=	XP_011522131.1:p.Glu297=
XM_011523830.1:c.889G=	XP_011522132.1:p.Glu297=
XR_934021.1:n.996G=
XR_934022.1:n.996G=
XR_934023.1:n.996G=
XM_006721516.3:c.889G=	XP_006721579.2:p.Glu297=
XM_011523829.2:c.889G=	XP_011522131.1:p.Glu297=
XM_011523830.2:c.889G=	XP_011522132.1:p.Glu297=
XM_024450741.1:c.889G=	XP_024306509.1:p.Glu297=
XR_934021.2:n.948G=
XR_934022.2:n.948G=
XR_934023.2:n.948G=
NM_000018.4:c.889G= MANE Select	NP_000009.1:p.Glu297=
NM_001033859.3:c.823G=	NP_001029031.1:p.Glu275=
NM_001270447.2:c.958G=	NP_001257376.1:p.Glu320=
NM_001270448.2:c.661G=	NP_001257377.1:p.Glu221=