Canonical Allele Identifier: CA2245709592

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222778C= , CM000679.2:g.7222778C=	GRCh38
NC_000017.10:g.7126097C= , CM000679.1:g.7126097C=	GRCh37
NC_000017.9:g.7066821C=	NCBI36
NG_007975.1:g.7945C=
NG_008391.2:g.2273G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.990C= MANE Select	ENSP00000349297.5:p.Phe330=
ENST00000322910.9:c.*945C=	ENSP00000325395.5:n.*945C=
ENST00000350303.9:c.924C=	ENSP00000344152.5:p.Phe308=
ENST00000356839.9:c.990C=	ENSP00000349297.5:p.Phe330=
ENST00000543245.6:c.1059C=	ENSP00000438689.2:p.Phe353=
ENST00000578824.5:n.139C=
ENST00000581378.5:c.708C=
ENST00000582379.1:n.374C=
ENST00000583858.5:c.19C=
NM_000018.3:c.990C=	NP_000009.1:p.Phe330=
NM_001033859.2:c.924C=	NP_001029031.1:p.Phe308=
NM_001270447.1:c.1059C=	NP_001257376.1:p.Phe353=
NM_001270448.1:c.762C=	NP_001257377.1:p.Phe254=
XM_006721516.2:c.990C=	XP_006721579.2:p.Phe330=
XM_011523829.1:c.990C=	XP_011522131.1:p.Phe330=
XM_011523830.1:c.990C=	XP_011522132.1:p.Phe330=
XR_934021.1:n.1097C=
XR_934022.1:n.1097C=
XR_934023.1:n.1097C=
XM_006721516.3:c.990C=	XP_006721579.2:p.Phe330=
XM_011523829.2:c.990C=	XP_011522131.1:p.Phe330=
XM_011523830.2:c.990C=	XP_011522132.1:p.Phe330=
XM_024450741.1:c.990C=	XP_024306509.1:p.Phe330=
XR_934021.2:n.1049C=
XR_934022.2:n.1049C=
XR_934023.2:n.1049C=
NM_000018.4:c.990C= MANE Select	NP_000009.1:p.Phe330=
NM_001033859.3:c.924C=	NP_001029031.1:p.Phe308=
NM_001270447.2:c.1059C=	NP_001257376.1:p.Phe353=
NM_001270448.2:c.762C=	NP_001257377.1:p.Phe254=