Canonical Allele Identifier: CA2245709643

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222783T= , CM000679.2:g.7222783T=	GRCh38
NC_000017.10:g.7126102T= , CM000679.1:g.7126102T=	GRCh37
NC_000017.9:g.7066826T=	NCBI36
NG_007975.1:g.7950T=
NG_008391.2:g.2268A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.995T= MANE Select	ENSP00000349297.5:p.Val332=
ENST00000322910.9:c.*950T=	ENSP00000325395.5:n.*950T=
ENST00000350303.9:c.929T=	ENSP00000344152.5:p.Val310=
ENST00000356839.9:c.995T=	ENSP00000349297.5:p.Val332=
ENST00000543245.6:c.1064T=	ENSP00000438689.2:p.Val355=
ENST00000578824.5:n.144T=
ENST00000581378.5:c.713T=
ENST00000582379.1:n.379T=
ENST00000583858.5:c.24T=
NM_000018.3:c.995T=	NP_000009.1:p.Val332=
NM_001033859.2:c.929T=	NP_001029031.1:p.Val310=
NM_001270447.1:c.1064T=	NP_001257376.1:p.Val355=
NM_001270448.1:c.767T=	NP_001257377.1:p.Val256=
XM_006721516.2:c.995T=	XP_006721579.2:p.Val332=
XM_011523829.1:c.995T=	XP_011522131.1:p.Val332=
XM_011523830.1:c.995T=	XP_011522132.1:p.Val332=
XR_934021.1:n.1102T=
XR_934022.1:n.1102T=
XR_934023.1:n.1102T=
XM_006721516.3:c.995T=	XP_006721579.2:p.Val332=
XM_011523829.2:c.995T=	XP_011522131.1:p.Val332=
XM_011523830.2:c.995T=	XP_011522132.1:p.Val332=
XM_024450741.1:c.995T=	XP_024306509.1:p.Val332=
XR_934021.2:n.1054T=
XR_934022.2:n.1054T=
XR_934023.2:n.1054T=
NM_000018.4:c.995T= MANE Select	NP_000009.1:p.Val332=
NM_001033859.3:c.929T=	NP_001029031.1:p.Val310=
NM_001270447.2:c.1064T=	NP_001257376.1:p.Val355=
NM_001270448.2:c.767T=	NP_001257377.1:p.Val256=