Canonical Allele Identifier: CA2245700102

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221563G= , CM000679.2:g.7221563G=	GRCh38
NC_000017.10:g.7124882G= , CM000679.1:g.7124882G=	GRCh37
NC_000017.9:g.7065606G=	NCBI36
NG_007975.1:g.6730G=
NG_008391.2:g.3488C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.503G= MANE Select	ENSP00000349297.5:p.Gly168=
ENST00000322910.9:c.*458G=	ENSP00000325395.5:n.*458G=
ENST00000350303.9:c.437G=	ENSP00000344152.5:p.Gly146=
ENST00000356839.9:c.503G=	ENSP00000349297.5:p.Gly168=
ENST00000543245.6:c.572G=	ENSP00000438689.2:p.Gly191=
ENST00000577191.5:n.580G=
ENST00000577433.5:n.711G=
ENST00000577857.5:n.319G=
ENST00000579286.5:n.684G=
ENST00000579886.2:c.341G=	ENSP00000463246.1:p.Gly114=
ENST00000580365.1:n.234G=
ENST00000581378.5:c.221G=
ENST00000581562.5:n.525-389G=
ENST00000582166.1:n.484G=
ENST00000583312.5:c.503G=	ENSP00000467920.1:p.Gly168=
ENST00000583760.1:n.285G=
NM_000018.3:c.503G=	NP_000009.1:p.Gly168=
NM_001033859.2:c.437G=	NP_001029031.1:p.Gly146=
NM_001270447.1:c.572G=	NP_001257376.1:p.Gly191=
NM_001270448.1:c.275G=	NP_001257377.1:p.Gly92=
XM_006721516.2:c.503G=	XP_006721579.2:p.Gly168=
XM_011523829.1:c.503G=	XP_011522131.1:p.Gly168=
XM_011523830.1:c.503G=	XP_011522132.1:p.Gly168=
XR_934021.1:n.610G=
XR_934022.1:n.610G=
XR_934023.1:n.610G=
XM_006721516.3:c.503G=	XP_006721579.2:p.Gly168=
XM_011523829.2:c.503G=	XP_011522131.1:p.Gly168=
XM_011523830.2:c.503G=	XP_011522132.1:p.Gly168=
XM_024450741.1:c.503G=	XP_024306509.1:p.Gly168=
XR_934021.2:n.562G=
XR_934022.2:n.562G=
XR_934023.2:n.562G=
NM_000018.4:c.503G= MANE Select	NP_000009.1:p.Gly168=
NM_001033859.3:c.437G=	NP_001029031.1:p.Gly146=
NM_001270447.2:c.572G=	NP_001257376.1:p.Gly191=
NM_001270448.2:c.275G=	NP_001257377.1:p.Gly92=