Canonical Allele Identifier: CA2245710485

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223156C= , CM000679.2:g.7223156C=	GRCh38
NC_000017.10:g.7126475C= , CM000679.1:g.7126475C=	GRCh37
NC_000017.9:g.7067199C=	NCBI36
NG_007975.1:g.8323C=
NG_008391.2:g.1895G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1101C= MANE Select	ENSP00000349297.5:p.Thr367=
ENST00000322910.9:c.*1056C=	ENSP00000325395.5:n.*1056C=
ENST00000350303.9:c.1035C=	ENSP00000344152.5:p.Thr345=
ENST00000356839.9:c.1101C=	ENSP00000349297.5:p.Thr367=
ENST00000543245.6:c.1170C=	ENSP00000438689.2:p.Thr390=
ENST00000578579.2:n.50C=
ENST00000578824.5:n.517C=
ENST00000579425.5:n.125C=
ENST00000582379.1:n.752C=
ENST00000583858.5:c.130C=
ENST00000585203.6:n.309C=
NM_000018.3:c.1101C=	NP_000009.1:p.Thr367=
NM_001033859.2:c.1035C=	NP_001029031.1:p.Thr345=
NM_001270447.1:c.1170C=	NP_001257376.1:p.Thr390=
NM_001270448.1:c.873C=	NP_001257377.1:p.Thr291=
XM_006721516.2:c.1101C=	XP_006721579.2:p.Thr367=
XM_011523829.1:c.1101C=	XP_011522131.1:p.Thr367=
XM_011523830.1:c.1101C=	XP_011522132.1:p.Thr367=
XR_934021.1:n.1208C=
XR_934022.1:n.1208C=
XR_934023.1:n.1208C=
XM_006721516.3:c.1101C=	XP_006721579.2:p.Thr367=
XM_011523829.2:c.1101C=	XP_011522131.1:p.Thr367=
XM_011523830.2:c.1101C=	XP_011522132.1:p.Thr367=
XM_024450741.1:c.1101C=	XP_024306509.1:p.Thr367=
XR_934021.2:n.1160C=
XR_934022.2:n.1160C=
XR_934023.2:n.1160C=
NM_000018.4:c.1101C= MANE Select	NP_000009.1:p.Thr367=
NM_001033859.3:c.1035C=	NP_001029031.1:p.Thr345=
NM_001270447.2:c.1170C=	NP_001257376.1:p.Thr390=
NM_001270448.2:c.873C=	NP_001257377.1:p.Thr291=