Canonical Allele Identifier: CA2245712823

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224064T= , CM000679.2:g.7224064T=	GRCh38
NC_000017.10:g.7127383T= , CM000679.1:g.7127383T=	GRCh37
NC_000017.9:g.7068107T=	NCBI36
NG_007975.1:g.9231T=
NG_008391.2:g.987A=
NG_033038.1:g.15481A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1429T= MANE Select	ENSP00000349297.5:p.Cys477=
ENST00000322910.9:c.*1384T=	ENSP00000325395.5:n.*1384T=
ENST00000350303.9:c.1363T=	ENSP00000344152.5:p.Cys455=
ENST00000356839.9:c.1429T=	ENSP00000349297.5:p.Cys477=
ENST00000542255.6:c.287T=
ENST00000543245.6:c.1498T=	ENSP00000438689.2:p.Cys500=
ENST00000578711.1:n.560T=
ENST00000579425.5:n.545T=
ENST00000579546.1:c.266T=
ENST00000579894.5:n.140T=
ENST00000583074.5:n.148T=
ENST00000583850.5:n.204T=
ENST00000583858.5:c.458T=
ENST00000585203.6:n.620T=
NM_000018.3:c.1429T=	NP_000009.1:p.Cys477=
NM_001033859.2:c.1363T=	NP_001029031.1:p.Cys455=
NM_001270447.1:c.1498T=	NP_001257376.1:p.Cys500=
NM_001270448.1:c.1201T=	NP_001257377.1:p.Cys401=
XM_006721516.2:c.1429T=	XP_006721579.2:p.Cys477=
XM_011523829.1:c.1429T=	XP_011522131.1:p.Cys477=
XM_011523830.1:c.1429T=	XP_011522132.1:p.Cys477=
XR_934021.1:n.1536T=
XR_934022.1:n.1536T=
XR_934023.1:n.1536T=
XM_006721516.3:c.1429T=	XP_006721579.2:p.Cys477=
XM_011523829.2:c.1429T=	XP_011522131.1:p.Cys477=
XM_011523830.2:c.1429T=	XP_011522132.1:p.Cys477=
XM_024450741.1:c.1429T=	XP_024306509.1:p.Cys477=
XR_934021.2:n.1488T=
XR_934022.2:n.1488T=
XR_934023.2:n.1488T=
NM_000018.4:c.1429T= MANE Select	NP_000009.1:p.Cys477=
NM_001033859.3:c.1363T=	NP_001029031.1:p.Cys455=
NM_001270447.2:c.1498T=	NP_001257376.1:p.Cys500=
NM_001270448.2:c.1201T=	NP_001257377.1:p.Cys401=