Canonical Allele Identifier: CA2245714465

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224498C= , CM000679.2:g.7224498C=	GRCh38
NC_000017.10:g.7127817C= , CM000679.1:g.7127817C=	GRCh37
NC_000017.9:g.7068541C=	NCBI36
NG_007975.1:g.9665C=
NG_008391.2:g.553G=
NG_033038.1:g.15047G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1624C= MANE Select	ENSP00000349297.5:p.Gln542=
ENST00000322910.9:c.*1579C=	ENSP00000325395.5:n.*1579C=
ENST00000350303.9:c.1558C=	ENSP00000344152.5:p.Gln520=
ENST00000356839.9:c.1624C=	ENSP00000349297.5:p.Gln542=
ENST00000542255.6:c.482C=
ENST00000543245.6:c.1693C=	ENSP00000438689.2:p.Gln565=
ENST00000578319.5:n.205C=
ENST00000578711.1:n.994C=
ENST00000578809.5:n.196C=
ENST00000579391.1:n.228C=
ENST00000579425.5:n.740C=
ENST00000579546.1:c.359C=
ENST00000579894.5:n.411C=
ENST00000582450.1:n.132C=
ENST00000583074.5:n.245C=
ENST00000583848.5:c.10C=	ENSP00000466487.1:p.Gln4=
ENST00000583850.5:n.395C=
ENST00000583858.5:c.555C=
ENST00000585203.6:n.815C=
NM_000018.3:c.1624C=	NP_000009.1:p.Gln542=
NM_001033859.2:c.1558C=	NP_001029031.1:p.Gln520=
NM_001270447.1:c.1693C=	NP_001257376.1:p.Gln565=
NM_001270448.1:c.1396C=	NP_001257377.1:p.Gln466=
XM_006721516.2:c.1624C=	XP_006721579.2:p.Gln542=
XM_011523829.1:c.1522C=	XP_011522131.1:p.Gln508=
XM_011523830.1:c.1522C=	XP_011522132.1:p.Gln508=
XR_934021.1:n.1727C=
XR_934022.1:n.1633C=
XR_934023.1:n.1633C=
XM_006721516.3:c.1624C=	XP_006721579.2:p.Gln542=
XM_011523829.2:c.1522C=	XP_011522131.1:p.Gln508=
XM_011523830.2:c.1522C=	XP_011522132.1:p.Gln508=
XM_024450741.1:c.1612C=	XP_024306509.1:p.Gln538=
XR_934021.2:n.1679C=
XR_934022.2:n.1585C=
XR_934023.2:n.1585C=
NM_000018.4:c.1624C= MANE Select	NP_000009.1:p.Gln542=
NM_001033859.3:c.1558C=	NP_001029031.1:p.Gln520=
NM_001270447.2:c.1693C=	NP_001257376.1:p.Gln565=
NM_001270448.2:c.1396C=	NP_001257377.1:p.Gln466=