Canonical Allele Identifier: CA2245698928

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220774G= , CM000679.2:g.7220774G=	GRCh38
NC_000017.10:g.7124093G= , CM000679.1:g.7124093G=	GRCh37
NC_000017.9:g.7064817G=	NCBI36
NG_007975.1:g.5941G=
NG_008391.2:g.4277C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.286G= MANE Select	ENSP00000349297.5:p.Glu96=
ENST00000322910.9:c.*241G=	ENSP00000325395.5:n.*241G=
ENST00000350303.9:c.220G=	ENSP00000344152.5:p.Glu74=
ENST00000356839.9:c.286G=	ENSP00000349297.5:p.Glu96=
ENST00000543245.6:c.355G=	ENSP00000438689.2:p.Glu119=
ENST00000577191.5:n.363G=
ENST00000577433.5:n.494G=
ENST00000577857.5:n.237G=
ENST00000579286.5:n.467G=
ENST00000579886.2:c.202-171G=	ENSP00000463246.1:n.202-171G=
ENST00000580263.5:n.539G=
ENST00000580365.1:n.17G=
ENST00000581562.5:n.333G=
ENST00000582056.5:n.376G=
ENST00000582166.1:n.174G=
ENST00000582356.5:n.485G=
ENST00000583312.5:c.286G=	ENSP00000467920.1:p.Glu96=
ENST00000584103.5:c.286G=	ENSP00000465353.1:p.Glu96=
NM_000018.3:c.286G=	NP_000009.1:p.Glu96=
NM_001033859.2:c.220G=	NP_001029031.1:p.Glu74=
NM_001270447.1:c.355G=	NP_001257376.1:p.Glu119=
NM_001270448.1:c.58G=	NP_001257377.1:p.Glu20=
XM_006721516.2:c.286G=	XP_006721579.2:p.Glu96=
XM_011523829.1:c.286G=	XP_011522131.1:p.Glu96=
XM_011523830.1:c.286G=	XP_011522132.1:p.Glu96=
XR_934021.1:n.393G=
XR_934022.1:n.393G=
XR_934023.1:n.393G=
XM_006721516.3:c.286G=	XP_006721579.2:p.Glu96=
XM_011523829.2:c.286G=	XP_011522131.1:p.Glu96=
XM_011523830.2:c.286G=	XP_011522132.1:p.Glu96=
XM_024450741.1:c.286G=	XP_024306509.1:p.Glu96=
XR_934021.2:n.345G=
XR_934022.2:n.345G=
XR_934023.2:n.345G=
NM_000018.4:c.286G= MANE Select	NP_000009.1:p.Glu96=
NM_001033859.3:c.220G=	NP_001029031.1:p.Glu74=
NM_001270447.2:c.355G=	NP_001257376.1:p.Glu119=
NM_001270448.2:c.58G=	NP_001257377.1:p.Glu20=