Canonical Allele Identifier: CA2245714490

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224506C= , CM000679.2:g.7224506C=	GRCh38
NC_000017.10:g.7127825C= , CM000679.1:g.7127825C=	GRCh37
NC_000017.9:g.7068549C=	NCBI36
NG_007975.1:g.9673C=
NG_008391.2:g.545G=
NG_033038.1:g.15039G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1632C= MANE Select	ENSP00000349297.5:p.Ala544=
ENST00000322910.9:c.*1587C=	ENSP00000325395.5:n.*1587C=
ENST00000350303.9:c.1566C=	ENSP00000344152.5:p.Ala522=
ENST00000356839.9:c.1632C=	ENSP00000349297.5:p.Ala544=
ENST00000542255.6:c.490C=
ENST00000543245.6:c.1701C=	ENSP00000438689.2:p.Ala567=
ENST00000578319.5:n.213C=
ENST00000578711.1:n.1002C=
ENST00000578809.5:n.204C=
ENST00000579391.1:n.236C=
ENST00000579425.5:n.748C=
ENST00000579546.1:c.367C=
ENST00000579894.5:n.419C=
ENST00000582450.1:n.140C=
ENST00000583074.5:n.253C=
ENST00000583848.5:c.18C=	ENSP00000466487.1:p.Ala6=
ENST00000583850.5:n.403C=
ENST00000583858.5:c.563C=
ENST00000585203.6:n.823C=
NM_000018.3:c.1632C=	NP_000009.1:p.Ala544=
NM_001033859.2:c.1566C=	NP_001029031.1:p.Ala522=
NM_001270447.1:c.1701C=	NP_001257376.1:p.Ala567=
NM_001270448.1:c.1404C=	NP_001257377.1:p.Ala468=
XM_006721516.2:c.1632C=	XP_006721579.2:p.Ala544=
XM_011523829.1:c.1530C=	XP_011522131.1:p.Ala510=
XM_011523830.1:c.1530C=	XP_011522132.1:p.Ala510=
XR_934021.1:n.1735C=
XR_934022.1:n.1641C=
XR_934023.1:n.1641C=
XM_006721516.3:c.1632C=	XP_006721579.2:p.Ala544=
XM_011523829.2:c.1530C=	XP_011522131.1:p.Ala510=
XM_011523830.2:c.1530C=	XP_011522132.1:p.Ala510=
XM_024450741.1:c.1620C=	XP_024306509.1:p.Ala540=
XR_934021.2:n.1687C=
XR_934022.2:n.1593C=
XR_934023.2:n.1593C=
NM_000018.4:c.1632C= MANE Select	NP_000009.1:p.Ala544=
NM_001033859.3:c.1566C=	NP_001029031.1:p.Ala522=
NM_001270447.2:c.1701C=	NP_001257376.1:p.Ala567=
NM_001270448.2:c.1404C=	NP_001257377.1:p.Ala468=