Canonical Allele Identifier: CA2245710661

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223214G= , CM000679.2:g.7223214G=	GRCh38
NC_000017.10:g.7126533G= , CM000679.1:g.7126533G=	GRCh37
NC_000017.9:g.7067257G=	NCBI36
NG_007975.1:g.8381G=
NG_008391.2:g.1837C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1159G= MANE Select	ENSP00000349297.5:p.Val387=
ENST00000322910.9:c.*1114G=	ENSP00000325395.5:n.*1114G=
ENST00000350303.9:c.1093G=	ENSP00000344152.5:p.Val365=
ENST00000356839.9:c.1159G=	ENSP00000349297.5:p.Val387=
ENST00000542255.6:c.17G=
ENST00000543245.6:c.1228G=	ENSP00000438689.2:p.Val410=
ENST00000578579.2:n.108G=
ENST00000578824.5:n.575G=
ENST00000579425.5:n.183G=
ENST00000582379.1:n.810G=
ENST00000583858.5:c.188G=
ENST00000585203.6:n.367G=
NM_000018.3:c.1159G=	NP_000009.1:p.Val387=
NM_001033859.2:c.1093G=	NP_001029031.1:p.Val365=
NM_001270447.1:c.1228G=	NP_001257376.1:p.Val410=
NM_001270448.1:c.931G=	NP_001257377.1:p.Val311=
XM_006721516.2:c.1159G=	XP_006721579.2:p.Val387=
XM_011523829.1:c.1159G=	XP_011522131.1:p.Val387=
XM_011523830.1:c.1159G=	XP_011522132.1:p.Val387=
XR_934021.1:n.1266G=
XR_934022.1:n.1266G=
XR_934023.1:n.1266G=
XM_006721516.3:c.1159G=	XP_006721579.2:p.Val387=
XM_011523829.2:c.1159G=	XP_011522131.1:p.Val387=
XM_011523830.2:c.1159G=	XP_011522132.1:p.Val387=
XM_024450741.1:c.1159G=	XP_024306509.1:p.Val387=
XR_934021.2:n.1218G=
XR_934022.2:n.1218G=
XR_934023.2:n.1218G=
NM_000018.4:c.1159G= MANE Select	NP_000009.1:p.Val387=
NM_001033859.3:c.1093G=	NP_001029031.1:p.Val365=
NM_001270447.2:c.1228G=	NP_001257376.1:p.Val410=
NM_001270448.2:c.931G=	NP_001257377.1:p.Val311=