Canonical Allele Identifier: CA2245715506

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224786T= , CM000679.2:g.7224786T=	GRCh38
NC_000017.10:g.7128105T= , CM000679.1:g.7128105T=	GRCh37
NC_000017.9:g.7068829T=	NCBI36
NG_007975.1:g.9953T=
NG_008391.2:g.265A=
NG_033038.1:g.14759A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1752-23T= MANE Select	ENSP00000349297.5:n.1752-23T=
ENST00000322910.9:c.*1707-23T=	ENSP00000325395.5:n.*1707-23T=
ENST00000350303.9:c.1686-23T=	ENSP00000344152.5:n.1686-23T=
ENST00000356839.9:c.1752-23T=	ENSP00000349297.5:n.1752-23T=
ENST00000542255.6:c.608T=
ENST00000543245.6:c.1821-23T=	ENSP00000438689.2:n.1821-23T=
ENST00000578033.1:n.154T=
ENST00000578319.5:n.333-23T=
ENST00000578711.1:n.1282T=
ENST00000578809.5:n.324-23T=
ENST00000579425.5:n.868-23T=
ENST00000579546.1:c.487-23T=
ENST00000583074.5:n.371T=
ENST00000583848.5:c.118-23T=	ENSP00000466487.1:n.118-23T=
ENST00000583850.5:n.523-23T=
ENST00000583858.5:c.683-23T=
ENST00000585203.6:n.943-23T=
NM_000018.3:c.1752-23T=	NP_000009.1:n.1752-23T=
NM_001033859.2:c.1686-23T=	NP_001029031.1:n.1686-23T=
NM_001270447.1:c.1821-23T=	NP_001257376.1:n.1821-23T=
NM_001270448.1:c.1524-23T=	NP_001257377.1:n.1524-23T=
XM_006721516.2:c.1750T=	XP_006721579.2:p.Phe584=
XM_011523829.1:c.1648T=	XP_011522131.1:p.Phe550=
XM_011523830.1:c.1650-23T=	XP_011522132.1:n.1650-23T=
XR_934021.1:n.1855-23T=
XR_934022.1:n.1761-23T=
XR_934023.1:n.1759T=
XM_006721516.3:c.1750T=	XP_006721579.2:p.Phe584=
XM_011523829.2:c.1648T=	XP_011522131.1:p.Phe550=
XM_011523830.2:c.1650-23T=	XP_011522132.1:n.1650-23T=
XM_024450741.1:c.1740-23T=	XP_024306509.1:n.1740-23T=
XR_934021.2:n.1807-23T=
XR_934022.2:n.1713-23T=
XR_934023.2:n.1711T=
NM_000018.4:c.1752-23T= MANE Select	NP_000009.1:n.1752-23T=
NM_001033859.3:c.1686-23T=	NP_001029031.1:n.1686-23T=
NM_001270447.2:c.1821-23T=	NP_001257376.1:n.1821-23T=
NM_001270448.2:c.1524-23T=	NP_001257377.1:n.1524-23T=