Canonical Allele Identifier: CA2245712638

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224017T= , CM000679.2:g.7224017T=	GRCh38
NC_000017.10:g.7127336T= , CM000679.1:g.7127336T=	GRCh37
NC_000017.9:g.7068060T=	NCBI36
NG_007975.1:g.9184T=
NG_008391.2:g.1034A=
NG_033038.1:g.15528A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1382T= MANE Select	ENSP00000349297.5:p.Phe461=
ENST00000322910.9:c.*1337T=	ENSP00000325395.5:n.*1337T=
ENST00000350303.9:c.1316T=	ENSP00000344152.5:p.Phe439=
ENST00000356839.9:c.1382T=	ENSP00000349297.5:p.Phe461=
ENST00000542255.6:c.240T=
ENST00000543245.6:c.1451T=	ENSP00000438689.2:p.Phe484=
ENST00000578711.1:n.513T=
ENST00000579425.5:n.498T=
ENST00000579546.1:c.219T=
ENST00000579894.5:n.93T=
ENST00000583074.5:n.101T=
ENST00000583850.5:n.157T=
ENST00000583858.5:c.411T=
ENST00000585203.6:n.573T=
NM_000018.3:c.1382T=	NP_000009.1:p.Phe461=
NM_001033859.2:c.1316T=	NP_001029031.1:p.Phe439=
NM_001270447.1:c.1451T=	NP_001257376.1:p.Phe484=
NM_001270448.1:c.1154T=	NP_001257377.1:p.Phe385=
XM_006721516.2:c.1382T=	XP_006721579.2:p.Phe461=
XM_011523829.1:c.1382T=	XP_011522131.1:p.Phe461=
XM_011523830.1:c.1382T=	XP_011522132.1:p.Phe461=
XR_934021.1:n.1489T=
XR_934022.1:n.1489T=
XR_934023.1:n.1489T=
XM_006721516.3:c.1382T=	XP_006721579.2:p.Phe461=
XM_011523829.2:c.1382T=	XP_011522131.1:p.Phe461=
XM_011523830.2:c.1382T=	XP_011522132.1:p.Phe461=
XM_024450741.1:c.1382T=	XP_024306509.1:p.Phe461=
XR_934021.2:n.1441T=
XR_934022.2:n.1441T=
XR_934023.2:n.1441T=
NM_000018.4:c.1382T= MANE Select	NP_000009.1:p.Phe461=
NM_001033859.3:c.1316T=	NP_001029031.1:p.Phe439=
NM_001270447.2:c.1451T=	NP_001257376.1:p.Phe484=
NM_001270448.2:c.1154T=	NP_001257377.1:p.Phe385=