Canonical Allele Identifier: CA2245700843

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221981G= , CM000679.2:g.7221981G=	GRCh38
NC_000017.10:g.7125300G= , CM000679.1:g.7125300G=	GRCh37
NC_000017.9:g.7066024G=	NCBI36
NG_007975.1:g.7148G=
NG_008391.2:g.3070C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.652G= MANE Select	ENSP00000349297.5:p.Glu218=
ENST00000322910.9:c.*607G=	ENSP00000325395.5:n.*607G=
ENST00000350303.9:c.586G=	ENSP00000344152.5:p.Glu196=
ENST00000356839.9:c.652G=	ENSP00000349297.5:p.Glu218=
ENST00000543245.6:c.721G=	ENSP00000438689.2:p.Glu241=
ENST00000577191.5:n.729G=
ENST00000577857.5:n.468G=
ENST00000579286.5:n.833G=
ENST00000580365.1:n.383G=
ENST00000581378.5:c.370G=
ENST00000581562.5:n.554G=
ENST00000582379.1:n.36G=
ENST00000583312.5:c.667G=	ENSP00000467920.1:p.Glu223=
ENST00000583760.1:n.434G=
NM_000018.3:c.652G=	NP_000009.1:p.Glu218=
NM_001033859.2:c.586G=	NP_001029031.1:p.Glu196=
NM_001270447.1:c.721G=	NP_001257376.1:p.Glu241=
NM_001270448.1:c.424G=	NP_001257377.1:p.Glu142=
XM_006721516.2:c.652G=	XP_006721579.2:p.Glu218=
XM_011523829.1:c.652G=	XP_011522131.1:p.Glu218=
XM_011523830.1:c.652G=	XP_011522132.1:p.Glu218=
XR_934021.1:n.759G=
XR_934022.1:n.759G=
XR_934023.1:n.759G=
XM_006721516.3:c.652G=	XP_006721579.2:p.Glu218=
XM_011523829.2:c.652G=	XP_011522131.1:p.Glu218=
XM_011523830.2:c.652G=	XP_011522132.1:p.Glu218=
XM_024450741.1:c.652G=	XP_024306509.1:p.Glu218=
XR_934021.2:n.711G=
XR_934022.2:n.711G=
XR_934023.2:n.711G=
NM_000018.4:c.652G= MANE Select	NP_000009.1:p.Glu218=
NM_001033859.3:c.586G=	NP_001029031.1:p.Glu196=
NM_001270447.2:c.721G=	NP_001257376.1:p.Glu241=
NM_001270448.2:c.424G=	NP_001257377.1:p.Glu142=