Canonical Allele Identifier: CA2245699068

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220830G= , CM000679.2:g.7220830G=	GRCh38
NC_000017.10:g.7124149G= , CM000679.1:g.7124149G=	GRCh37
NC_000017.9:g.7064873G=	NCBI36
NG_007975.1:g.5997G=
NG_008391.2:g.4221C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.342G= MANE Select	ENSP00000349297.5:p.Glu114=
ENST00000322910.9:c.*297G=	ENSP00000325395.5:n.*297G=
ENST00000350303.9:c.276G=	ENSP00000344152.5:p.Glu92=
ENST00000356839.9:c.342G=	ENSP00000349297.5:p.Glu114=
ENST00000543245.6:c.411G=	ENSP00000438689.2:p.Glu137=
ENST00000577191.5:n.419G=
ENST00000577433.5:n.550G=
ENST00000577857.5:n.293G=
ENST00000579286.5:n.523G=
ENST00000579886.2:c.202-115G=	ENSP00000463246.1:n.202-115G=
ENST00000580365.1:n.73G=
ENST00000581378.5:c.41G=
ENST00000581562.5:n.389G=
ENST00000582056.5:n.432G=
ENST00000582166.1:n.230G=
ENST00000582356.5:n.541G=
ENST00000583312.5:c.342G=	ENSP00000467920.1:p.Glu114=
ENST00000584103.5:c.342G=	ENSP00000465353.1:p.Glu114=
NM_000018.3:c.342G=	NP_000009.1:p.Glu114=
NM_001033859.2:c.276G=	NP_001029031.1:p.Glu92=
NM_001270447.1:c.411G=	NP_001257376.1:p.Glu137=
NM_001270448.1:c.114G=	NP_001257377.1:p.Glu38=
XM_006721516.2:c.342G=	XP_006721579.2:p.Glu114=
XM_011523829.1:c.342G=	XP_011522131.1:p.Glu114=
XM_011523830.1:c.342G=	XP_011522132.1:p.Glu114=
XR_934021.1:n.449G=
XR_934022.1:n.449G=
XR_934023.1:n.449G=
XM_006721516.3:c.342G=	XP_006721579.2:p.Glu114=
XM_011523829.2:c.342G=	XP_011522131.1:p.Glu114=
XM_011523830.2:c.342G=	XP_011522132.1:p.Glu114=
XM_024450741.1:c.342G=	XP_024306509.1:p.Glu114=
XR_934021.2:n.401G=
XR_934022.2:n.401G=
XR_934023.2:n.401G=
NM_000018.4:c.342G= MANE Select	NP_000009.1:p.Glu114=
NM_001033859.3:c.276G=	NP_001029031.1:p.Glu92=
NM_001270447.2:c.411G=	NP_001257376.1:p.Glu137=
NM_001270448.2:c.114G=	NP_001257377.1:p.Glu38=