Canonical Allele Identifier: CA2245701340

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222214A= , CM000679.2:g.7222214A=	GRCh38
NC_000017.10:g.7125533A= , CM000679.1:g.7125533A=	GRCh37
NC_000017.9:g.7066257A=	NCBI36
NG_007975.1:g.7381A=
NG_008391.2:g.2837T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.790A= MANE Select	ENSP00000349297.5:p.Lys264=
ENST00000322910.9:c.*745A=	ENSP00000325395.5:n.*745A=
ENST00000350303.9:c.724A=	ENSP00000344152.5:p.Lys242=
ENST00000356839.9:c.790A=	ENSP00000349297.5:p.Lys264=
ENST00000543245.6:c.859A=	ENSP00000438689.2:p.Lys287=
ENST00000577191.5:n.962A=
ENST00000581378.5:c.508A=
ENST00000582379.1:n.174A=
NM_000018.3:c.790A=	NP_000009.1:p.Lys264=
NM_001033859.2:c.724A=	NP_001029031.1:p.Lys242=
NM_001270447.1:c.859A=	NP_001257376.1:p.Lys287=
NM_001270448.1:c.562A=	NP_001257377.1:p.Lys188=
XM_006721516.2:c.790A=	XP_006721579.2:p.Lys264=
XM_011523829.1:c.790A=	XP_011522131.1:p.Lys264=
XM_011523830.1:c.790A=	XP_011522132.1:p.Lys264=
XR_934021.1:n.897A=
XR_934022.1:n.897A=
XR_934023.1:n.897A=
XM_006721516.3:c.790A=	XP_006721579.2:p.Lys264=
XM_011523829.2:c.790A=	XP_011522131.1:p.Lys264=
XM_011523830.2:c.790A=	XP_011522132.1:p.Lys264=
XM_024450741.1:c.790A=	XP_024306509.1:p.Lys264=
XR_934021.2:n.849A=
XR_934022.2:n.849A=
XR_934023.2:n.849A=
NM_000018.4:c.790A= MANE Select	NP_000009.1:p.Lys264=
NM_001033859.3:c.724A=	NP_001029031.1:p.Lys242=
NM_001270447.2:c.859A=	NP_001257376.1:p.Lys287=
NM_001270448.2:c.562A=	NP_001257377.1:p.Lys188=