Canonical Allele Identifier: CA2245715080

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224663G= , CM000679.2:g.7224663G=	GRCh38
NC_000017.10:g.7127982G= , CM000679.1:g.7127982G=	GRCh37
NC_000017.9:g.7068706G=	NCBI36
NG_007975.1:g.9830G=
NG_008391.2:g.388C=
NG_033038.1:g.14882C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1700G= MANE Select	ENSP00000349297.5:p.Arg567=
ENST00000322910.9:c.*1655G=	ENSP00000325395.5:n.*1655G=
ENST00000350303.9:c.1634G=	ENSP00000344152.5:p.Arg545=
ENST00000356839.9:c.1700G=	ENSP00000349297.5:p.Arg567=
ENST00000542255.6:c.537-52G=
ENST00000543245.6:c.1769G=	ENSP00000438689.2:p.Arg590=
ENST00000578033.1:n.31G=
ENST00000578319.5:n.281G=
ENST00000578711.1:n.1159G=
ENST00000578809.5:n.272G=
ENST00000579425.5:n.816G=
ENST00000579546.1:c.435G=
ENST00000583074.5:n.300-52G=
ENST00000583848.5:c.66G=	ENSP00000466487.1:p.Thr22=
ENST00000583850.5:n.471G=
ENST00000583858.5:c.631G=
ENST00000585203.6:n.891G=
NM_000018.3:c.1700G=	NP_000009.1:p.Arg567=
NM_001033859.2:c.1634G=	NP_001029031.1:p.Arg545=
NM_001270447.1:c.1769G=	NP_001257376.1:p.Arg590=
NM_001270448.1:c.1472G=	NP_001257377.1:p.Arg491=
XM_006721516.2:c.1679-52G=	XP_006721579.2:n.1679-52G=
XM_011523829.1:c.1577-52G=	XP_011522131.1:n.1577-52G=
XM_011523830.1:c.1598G=	XP_011522132.1:p.Arg533=
XR_934021.1:n.1803G=
XR_934022.1:n.1709G=
XR_934023.1:n.1688-52G=
XM_006721516.3:c.1679-52G=	XP_006721579.2:n.1679-52G=
XM_011523829.2:c.1577-52G=	XP_011522131.1:n.1577-52G=
XM_011523830.2:c.1598G=	XP_011522132.1:p.Arg533=
XM_024450741.1:c.1688G=	XP_024306509.1:p.Arg563=
XR_934021.2:n.1755G=
XR_934022.2:n.1661G=
XR_934023.2:n.1640-52G=
NM_000018.4:c.1700G= MANE Select	NP_000009.1:p.Arg567=
NM_001033859.3:c.1634G=	NP_001029031.1:p.Arg545=
NM_001270447.2:c.1769G=	NP_001257376.1:p.Arg590=
NM_001270448.2:c.1472G=	NP_001257377.1:p.Arg491=