Canonical Allele Identifier: CA2245701032

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222058C= , CM000679.2:g.7222058C=	GRCh38
NC_000017.10:g.7125377C= , CM000679.1:g.7125377C=	GRCh37
NC_000017.9:g.7066101C=	NCBI36
NG_007975.1:g.7225C=
NG_008391.2:g.2993G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.729C= MANE Select	ENSP00000349297.5:p.Leu243=
ENST00000322910.9:c.*684C=	ENSP00000325395.5:n.*684C=
ENST00000350303.9:c.663C=	ENSP00000344152.5:p.Leu221=
ENST00000356839.9:c.729C=	ENSP00000349297.5:p.Leu243=
ENST00000543245.6:c.798C=	ENSP00000438689.2:p.Leu266=
ENST00000577191.5:n.806C=
ENST00000577857.5:n.545C=
ENST00000579286.5:n.910C=
ENST00000580365.1:n.460C=
ENST00000581378.5:c.447C=
ENST00000582379.1:n.113C=
ENST00000583760.1:n.511C=
NM_000018.3:c.729C=	NP_000009.1:p.Leu243=
NM_001033859.2:c.663C=	NP_001029031.1:p.Leu221=
NM_001270447.1:c.798C=	NP_001257376.1:p.Leu266=
NM_001270448.1:c.501C=	NP_001257377.1:p.Leu167=
XM_006721516.2:c.729C=	XP_006721579.2:p.Leu243=
XM_011523829.1:c.729C=	XP_011522131.1:p.Leu243=
XM_011523830.1:c.729C=	XP_011522132.1:p.Leu243=
XR_934021.1:n.836C=
XR_934022.1:n.836C=
XR_934023.1:n.836C=
XM_006721516.3:c.729C=	XP_006721579.2:p.Leu243=
XM_011523829.2:c.729C=	XP_011522131.1:p.Leu243=
XM_011523830.2:c.729C=	XP_011522132.1:p.Leu243=
XM_024450741.1:c.729C=	XP_024306509.1:p.Leu243=
XR_934021.2:n.788C=
XR_934022.2:n.788C=
XR_934023.2:n.788C=
NM_000018.4:c.729C= MANE Select	NP_000009.1:p.Leu243=
NM_001033859.3:c.663C=	NP_001029031.1:p.Leu221=
NM_001270447.2:c.798C=	NP_001257376.1:p.Leu266=
NM_001270448.2:c.501C=	NP_001257377.1:p.Leu167=