Canonical Allele Identifier: CA2245711998

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223852A= , CM000679.2:g.7223852A=	GRCh38
NC_000017.10:g.7127171A= , CM000679.1:g.7127171A=	GRCh37
NC_000017.9:g.7067895A=	NCBI36
NG_007975.1:g.9019A=
NG_008391.2:g.1199T=
NG_033038.1:g.15693T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1309A= MANE Select	ENSP00000349297.5:p.Met437=
ENST00000322910.9:c.*1264A=	ENSP00000325395.5:n.*1264A=
ENST00000350303.9:c.1243A=	ENSP00000344152.5:p.Met415=
ENST00000356839.9:c.1309A=	ENSP00000349297.5:p.Met437=
ENST00000542255.6:c.167A=
ENST00000543245.6:c.1378A=	ENSP00000438689.2:p.Met460=
ENST00000578711.1:n.348A=
ENST00000579425.5:n.333A=
ENST00000579546.1:c.146A=
ENST00000583074.5:n.28A=
ENST00000583850.5:n.84A=
ENST00000583858.5:c.338A=
ENST00000585203.6:n.517A=
NM_000018.3:c.1309A=	NP_000009.1:p.Met437=
NM_001033859.2:c.1243A=	NP_001029031.1:p.Met415=
NM_001270447.1:c.1378A=	NP_001257376.1:p.Met460=
NM_001270448.1:c.1081A=	NP_001257377.1:p.Met361=
XM_006721516.2:c.1309A=	XP_006721579.2:p.Met437=
XM_011523829.1:c.1309A=	XP_011522131.1:p.Met437=
XM_011523830.1:c.1309A=	XP_011522132.1:p.Met437=
XR_934021.1:n.1416A=
XR_934022.1:n.1416A=
XR_934023.1:n.1416A=
XM_006721516.3:c.1309A=	XP_006721579.2:p.Met437=
XM_011523829.2:c.1309A=	XP_011522131.1:p.Met437=
XM_011523830.2:c.1309A=	XP_011522132.1:p.Met437=
XM_024450741.1:c.1309A=	XP_024306509.1:p.Met437=
XR_934021.2:n.1368A=
XR_934022.2:n.1368A=
XR_934023.2:n.1368A=
NM_000018.4:c.1309A= MANE Select	NP_000009.1:p.Met437=
NM_001033859.3:c.1243A=	NP_001029031.1:p.Met415=
NM_001270447.2:c.1378A=	NP_001257376.1:p.Met460=
NM_001270448.2:c.1081A=	NP_001257377.1:p.Met361=