Canonical Allele Identifier: CA913187494

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220794T= , CM000679.2:g.7220794T=	GRCh38
NC_000017.10:g.7124113T= , CM000679.1:g.7124113T=	GRCh37
NC_000017.9:g.7064837T=	NCBI36
NG_007975.1:g.5961T=
NG_008391.2:g.4257A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.306T= MANE Select	ENSP00000349297.5:p.Leu102=
ENST00000322910.9:c.*261T=	ENSP00000325395.5:n.*261T=
ENST00000350303.9:c.240T=	ENSP00000344152.5:p.Leu80=
ENST00000356839.9:c.306T=	ENSP00000349297.5:p.Leu102=
ENST00000543245.6:c.375T=	ENSP00000438689.2:p.Leu125=
ENST00000577191.5:n.383T=
ENST00000577433.5:n.514T=
ENST00000577857.5:n.257T=
ENST00000579286.5:n.487T=
ENST00000579886.2:c.202-151T=	ENSP00000463246.1:n.202-151T=
ENST00000580365.1:n.37T=
ENST00000581378.5:c.5T=
ENST00000581562.5:n.353T=
ENST00000582056.5:n.396T=
ENST00000582166.1:n.194T=
ENST00000582356.5:n.505T=
ENST00000583312.5:c.306T=	ENSP00000467920.1:p.Leu102=
ENST00000584103.5:c.306T=	ENSP00000465353.1:p.Leu102=
NM_000018.3:c.306T=	NP_000009.1:p.Leu102=
NM_001033859.2:c.240T=	NP_001029031.1:p.Leu80=
NM_001270447.1:c.375T=	NP_001257376.1:p.Leu125=
NM_001270448.1:c.78T=	NP_001257377.1:p.Leu26=
XM_006721516.2:c.306T=	XP_006721579.2:p.Leu102=
XM_011523829.1:c.306T=	XP_011522131.1:p.Leu102=
XM_011523830.1:c.306T=	XP_011522132.1:p.Leu102=
XR_934021.1:n.413T=
XR_934022.1:n.413T=
XR_934023.1:n.413T=
XM_006721516.3:c.306T=	XP_006721579.2:p.Leu102=
XM_011523829.2:c.306T=	XP_011522131.1:p.Leu102=
XM_011523830.2:c.306T=	XP_011522132.1:p.Leu102=
XM_024450741.1:c.306T=	XP_024306509.1:p.Leu102=
XR_934021.2:n.365T=
XR_934022.2:n.365T=
XR_934023.2:n.365T=
NM_000018.4:c.306T= MANE Select	NP_000009.1:p.Leu102=
NM_001033859.3:c.240T=	NP_001029031.1:p.Leu80=
NM_001270447.2:c.375T=	NP_001257376.1:p.Leu125=
NM_001270448.2:c.78T=	NP_001257377.1:p.Leu26=