Canonical Allele Identifier: CA2245716315

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225025C= , CM000679.2:g.7225025C=	GRCh38
NC_000017.10:g.7128344C= , CM000679.1:g.7128344C=	GRCh37
NC_000017.9:g.7069068C=	NCBI36
NG_007975.1:g.10192C=
NG_008391.2:g.26G=
NG_033038.1:g.14520G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1896C= MANE Select	ENSP00000349297.5:p.Arg632=
ENST00000322910.9:c.*1851C=	ENSP00000325395.5:n.*1851C=
ENST00000350303.9:c.1830C=	ENSP00000344152.5:p.Arg610=
ENST00000356839.9:c.1896C=	ENSP00000349297.5:p.Arg632=
ENST00000542255.6:c.775C=
ENST00000543245.6:c.1965C=	ENSP00000438689.2:p.Arg655=
ENST00000578033.1:n.321C=
ENST00000578319.5:n.477C=
ENST00000578711.1:n.1521C=
ENST00000578809.5:n.468C=
ENST00000579425.5:n.1012C=
ENST00000583848.5:c.262C=	ENSP00000466487.1:n.262C=
ENST00000583850.5:n.667C=
ENST00000583858.5:c.827C=
NM_000018.3:c.1896C=	NP_000009.1:p.Arg632=
NM_001033859.2:c.1830C=	NP_001029031.1:p.Arg610=
NM_001270447.1:c.1965C=	NP_001257376.1:p.Arg655=
NM_001270448.1:c.1668C=	NP_001257377.1:p.Arg556=
XM_006721516.2:c.1917C=	XP_006721579.2:p.Arg639=
XM_011523829.1:c.1815C=	XP_011522131.1:p.Arg605=
XM_011523830.1:c.1794C=	XP_011522132.1:p.Arg598=
XR_934021.1:n.1999C=
XR_934022.1:n.1905C=
XR_934023.1:n.1926C=
XM_006721516.3:c.1917C=	XP_006721579.2:p.Arg639=
XM_011523829.2:c.1815C=	XP_011522131.1:p.Arg605=
XM_011523830.2:c.1794C=	XP_011522132.1:p.Arg598=
XM_024450741.1:c.1884C=	XP_024306509.1:p.Arg628=
XR_934021.2:n.1951C=
XR_934022.2:n.1857C=
XR_934023.2:n.1878C=
NM_000018.4:c.1896C= MANE Select	NP_000009.1:p.Arg632=
NM_001033859.3:c.1830C=	NP_001029031.1:p.Arg610=
NM_001270447.2:c.1965C=	NP_001257376.1:p.Arg655=
NM_001270448.2:c.1668C=	NP_001257377.1:p.Arg556=