Canonical Allele Identifier: CA2245715151

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224680A= , CM000679.2:g.7224680A=	GRCh38
NC_000017.10:g.7127999A= , CM000679.1:g.7127999A=	GRCh37
NC_000017.9:g.7068723A=	NCBI36
NG_007975.1:g.9847A=
NG_008391.2:g.371T=
NG_033038.1:g.14865T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1717A= MANE Select	ENSP00000349297.5:p.Ile573=
ENST00000322910.9:c.*1672A=	ENSP00000325395.5:n.*1672A=
ENST00000350303.9:c.1651A=	ENSP00000344152.5:p.Ile551=
ENST00000356839.9:c.1717A=	ENSP00000349297.5:p.Ile573=
ENST00000542255.6:c.537-35A=
ENST00000543245.6:c.1786A=	ENSP00000438689.2:p.Ile596=
ENST00000578033.1:n.48A=
ENST00000578319.5:n.298A=
ENST00000578711.1:n.1176A=
ENST00000578809.5:n.289A=
ENST00000579425.5:n.833A=
ENST00000579546.1:c.452A=
ENST00000583074.5:n.300-35A=
ENST00000583848.5:c.83A=	ENSP00000466487.1:p.His28=
ENST00000583850.5:n.488A=
ENST00000583858.5:c.648A=
ENST00000585203.6:n.908A=
NM_000018.3:c.1717A=	NP_000009.1:p.Ile573=
NM_001033859.2:c.1651A=	NP_001029031.1:p.Ile551=
NM_001270447.1:c.1786A=	NP_001257376.1:p.Ile596=
NM_001270448.1:c.1489A=	NP_001257377.1:p.Ile497=
XM_006721516.2:c.1679-35A=	XP_006721579.2:n.1679-35A=
XM_011523829.1:c.1577-35A=	XP_011522131.1:n.1577-35A=
XM_011523830.1:c.1615A=	XP_011522132.1:p.Ile539=
XR_934021.1:n.1820A=
XR_934022.1:n.1726A=
XR_934023.1:n.1688-35A=
XM_006721516.3:c.1679-35A=	XP_006721579.2:n.1679-35A=
XM_011523829.2:c.1577-35A=	XP_011522131.1:n.1577-35A=
XM_011523830.2:c.1615A=	XP_011522132.1:p.Ile539=
XM_024450741.1:c.1705A=	XP_024306509.1:p.Ile569=
XR_934021.2:n.1772A=
XR_934022.2:n.1678A=
XR_934023.2:n.1640-35A=
NM_000018.4:c.1717A= MANE Select	NP_000009.1:p.Ile573=
NM_001033859.3:c.1651A=	NP_001029031.1:p.Ile551=
NM_001270447.2:c.1786A=	NP_001257376.1:p.Ile596=
NM_001270448.2:c.1489A=	NP_001257377.1:p.Ile497=