Canonical Allele Identifier: CA2245716166

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224995G= , CM000679.2:g.7224995G=	GRCh38
NC_000017.10:g.7128314G= , CM000679.1:g.7128314G=	GRCh37
NC_000017.9:g.7069038G=	NCBI36
NG_007975.1:g.10162G=
NG_008391.2:g.56C=
NG_033038.1:g.14550C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1866G= MANE Select	ENSP00000349297.5:p.Gln622=
ENST00000322910.9:c.*1821G=	ENSP00000325395.5:n.*1821G=
ENST00000350303.9:c.1800G=	ENSP00000344152.5:p.Gln600=
ENST00000356839.9:c.1866G=	ENSP00000349297.5:p.Gln622=
ENST00000542255.6:c.745G=
ENST00000543245.6:c.1935G=	ENSP00000438689.2:p.Gln645=
ENST00000578033.1:n.291G=
ENST00000578319.5:n.447G=
ENST00000578711.1:n.1491G=
ENST00000578809.5:n.438G=
ENST00000579425.5:n.982G=
ENST00000583848.5:c.232G=	ENSP00000466487.1:n.232G=
ENST00000583850.5:n.637G=
ENST00000583858.5:c.797G=
NM_000018.3:c.1866G=	NP_000009.1:p.Gln622=
NM_001033859.2:c.1800G=	NP_001029031.1:p.Gln600=
NM_001270447.1:c.1935G=	NP_001257376.1:p.Gln645=
NM_001270448.1:c.1638G=	NP_001257377.1:p.Gln546=
XM_006721516.2:c.1887G=	XP_006721579.2:p.Gln629=
XM_011523829.1:c.1785G=	XP_011522131.1:p.Gln595=
XM_011523830.1:c.1764G=	XP_011522132.1:p.Gln588=
XR_934021.1:n.1969G=
XR_934022.1:n.1875G=
XR_934023.1:n.1896G=
XM_006721516.3:c.1887G=	XP_006721579.2:p.Gln629=
XM_011523829.2:c.1785G=	XP_011522131.1:p.Gln595=
XM_011523830.2:c.1764G=	XP_011522132.1:p.Gln588=
XM_024450741.1:c.1854G=	XP_024306509.1:p.Gln618=
XR_934021.2:n.1921G=
XR_934022.2:n.1827G=
XR_934023.2:n.1848G=
NM_000018.4:c.1866G= MANE Select	NP_000009.1:p.Gln622=
NM_001033859.3:c.1800G=	NP_001029031.1:p.Gln600=
NM_001270447.2:c.1935G=	NP_001257376.1:p.Gln645=
NM_001270448.2:c.1638G=	NP_001257377.1:p.Gln546=