Canonical Allele Identifier: CA2245715839

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224881C= , CM000679.2:g.7224881C=	GRCh38
NC_000017.10:g.7128200C= , CM000679.1:g.7128200C=	GRCh37
NC_000017.9:g.7068924C=	NCBI36
NG_007975.1:g.10048C=
NG_008391.2:g.170G=
NG_033038.1:g.14664G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1824C= MANE Select	ENSP00000349297.5:p.Ile608=
ENST00000322910.9:c.*1779C=	ENSP00000325395.5:n.*1779C=
ENST00000350303.9:c.1758C=	ENSP00000344152.5:p.Ile586=
ENST00000356839.9:c.1824C=	ENSP00000349297.5:p.Ile608=
ENST00000542255.6:c.703C=
ENST00000543245.6:c.1893C=	ENSP00000438689.2:p.Ile631=
ENST00000578033.1:n.249C=
ENST00000578319.5:n.405C=
ENST00000578711.1:n.1377C=
ENST00000578809.5:n.396C=
ENST00000579425.5:n.940C=
ENST00000579546.1:c.559C=
ENST00000583848.5:c.190C=	ENSP00000466487.1:n.190C=
ENST00000583850.5:n.595C=
ENST00000583858.5:c.755C=
NM_000018.3:c.1824C=	NP_000009.1:p.Ile608=
NM_001033859.2:c.1758C=	NP_001029031.1:p.Ile586=
NM_001270447.1:c.1893C=	NP_001257376.1:p.Ile631=
NM_001270448.1:c.1596C=	NP_001257377.1:p.Ile532=
XM_006721516.2:c.1845C=	XP_006721579.2:p.Ile615=
XM_011523829.1:c.1743C=	XP_011522131.1:p.Ile581=
XM_011523830.1:c.1722C=	XP_011522132.1:p.Ile574=
XR_934021.1:n.1927C=
XR_934022.1:n.1833C=
XR_934023.1:n.1854C=
XM_006721516.3:c.1845C=	XP_006721579.2:p.Ile615=
XM_011523829.2:c.1743C=	XP_011522131.1:p.Ile581=
XM_011523830.2:c.1722C=	XP_011522132.1:p.Ile574=
XM_024450741.1:c.1812C=	XP_024306509.1:p.Ile604=
XR_934021.2:n.1879C=
XR_934022.2:n.1785C=
XR_934023.2:n.1806C=
NM_000018.4:c.1824C= MANE Select	NP_000009.1:p.Ile608=
NM_001033859.3:c.1758C=	NP_001029031.1:p.Ile586=
NM_001270447.2:c.1893C=	NP_001257376.1:p.Ile631=
NM_001270448.2:c.1596C=	NP_001257377.1:p.Ile532=