Canonical Allele Identifier: CA2245716146

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224992G= , CM000679.2:g.7224992G=	GRCh38
NC_000017.10:g.7128311G= , CM000679.1:g.7128311G=	GRCh37
NC_000017.9:g.7069035G=	NCBI36
NG_007975.1:g.10159G=
NG_008391.2:g.59C=
NG_033038.1:g.14553C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1863G= MANE Select	ENSP00000349297.5:p.Leu621=
ENST00000322910.9:c.*1818G=	ENSP00000325395.5:n.*1818G=
ENST00000350303.9:c.1797G=	ENSP00000344152.5:p.Leu599=
ENST00000356839.9:c.1863G=	ENSP00000349297.5:p.Leu621=
ENST00000542255.6:c.742G=
ENST00000543245.6:c.1932G=	ENSP00000438689.2:p.Leu644=
ENST00000578033.1:n.288G=
ENST00000578319.5:n.444G=
ENST00000578711.1:n.1488G=
ENST00000578809.5:n.435G=
ENST00000579425.5:n.979G=
ENST00000583848.5:c.229G=	ENSP00000466487.1:n.229G=
ENST00000583850.5:n.634G=
ENST00000583858.5:c.794G=
NM_000018.3:c.1863G=	NP_000009.1:p.Leu621=
NM_001033859.2:c.1797G=	NP_001029031.1:p.Leu599=
NM_001270447.1:c.1932G=	NP_001257376.1:p.Leu644=
NM_001270448.1:c.1635G=	NP_001257377.1:p.Leu545=
XM_006721516.2:c.1884G=	XP_006721579.2:p.Leu628=
XM_011523829.1:c.1782G=	XP_011522131.1:p.Leu594=
XM_011523830.1:c.1761G=	XP_011522132.1:p.Leu587=
XR_934021.1:n.1966G=
XR_934022.1:n.1872G=
XR_934023.1:n.1893G=
XM_006721516.3:c.1884G=	XP_006721579.2:p.Leu628=
XM_011523829.2:c.1782G=	XP_011522131.1:p.Leu594=
XM_011523830.2:c.1761G=	XP_011522132.1:p.Leu587=
XM_024450741.1:c.1851G=	XP_024306509.1:p.Leu617=
XR_934021.2:n.1918G=
XR_934022.2:n.1824G=
XR_934023.2:n.1845G=
NM_000018.4:c.1863G= MANE Select	NP_000009.1:p.Leu621=
NM_001033859.3:c.1797G=	NP_001029031.1:p.Leu599=
NM_001270447.2:c.1932G=	NP_001257376.1:p.Leu644=
NM_001270448.2:c.1635G=	NP_001257377.1:p.Leu545=