Canonical Allele Identifier: CA2245710622

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223203T= , CM000679.2:g.7223203T=	GRCh38
NC_000017.10:g.7126522T= , CM000679.1:g.7126522T=	GRCh37
NC_000017.9:g.7067246T=	NCBI36
NG_007975.1:g.8370T=
NG_008391.2:g.1848A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1148T= MANE Select	ENSP00000349297.5:p.Leu383=
ENST00000322910.9:c.*1103T=	ENSP00000325395.5:n.*1103T=
ENST00000350303.9:c.1082T=	ENSP00000344152.5:p.Leu361=
ENST00000356839.9:c.1148T=	ENSP00000349297.5:p.Leu383=
ENST00000542255.6:c.6T=
ENST00000543245.6:c.1217T=	ENSP00000438689.2:p.Leu406=
ENST00000578579.2:n.97T=
ENST00000578824.5:n.564T=
ENST00000579425.5:n.172T=
ENST00000582379.1:n.799T=
ENST00000583858.5:c.177T=
ENST00000585203.6:n.356T=
NM_000018.3:c.1148T=	NP_000009.1:p.Leu383=
NM_001033859.2:c.1082T=	NP_001029031.1:p.Leu361=
NM_001270447.1:c.1217T=	NP_001257376.1:p.Leu406=
NM_001270448.1:c.920T=	NP_001257377.1:p.Leu307=
XM_006721516.2:c.1148T=	XP_006721579.2:p.Leu383=
XM_011523829.1:c.1148T=	XP_011522131.1:p.Leu383=
XM_011523830.1:c.1148T=	XP_011522132.1:p.Leu383=
XR_934021.1:n.1255T=
XR_934022.1:n.1255T=
XR_934023.1:n.1255T=
XM_006721516.3:c.1148T=	XP_006721579.2:p.Leu383=
XM_011523829.2:c.1148T=	XP_011522131.1:p.Leu383=
XM_011523830.2:c.1148T=	XP_011522132.1:p.Leu383=
XM_024450741.1:c.1148T=	XP_024306509.1:p.Leu383=
XR_934021.2:n.1207T=
XR_934022.2:n.1207T=
XR_934023.2:n.1207T=
NM_000018.4:c.1148T= MANE Select	NP_000009.1:p.Leu383=
NM_001033859.3:c.1082T=	NP_001029031.1:p.Leu361=
NM_001270447.2:c.1217T=	NP_001257376.1:p.Leu406=
NM_001270448.2:c.920T=	NP_001257377.1:p.Leu307=