Canonical Allele Identifier: CA2245715246

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224712G= , CM000679.2:g.7224712G=	GRCh38
NC_000017.10:g.7128031G= , CM000679.1:g.7128031G=	GRCh37
NC_000017.9:g.7068755G=	NCBI36
NG_007975.1:g.9879G=
NG_008391.2:g.339C=
NG_033038.1:g.14833C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1749G= MANE Select	ENSP00000349297.5:p.Ser583=
ENST00000322910.9:c.*1704G=	ENSP00000325395.5:n.*1704G=
ENST00000350303.9:c.1683G=	ENSP00000344152.5:p.Ser561=
ENST00000356839.9:c.1749G=	ENSP00000349297.5:p.Ser583=
ENST00000542255.6:c.537-3G=
ENST00000543245.6:c.1818G=	ENSP00000438689.2:p.Ser606=
ENST00000578033.1:n.80G=
ENST00000578319.5:n.330G=
ENST00000578711.1:n.1208G=
ENST00000578809.5:n.321G=
ENST00000579425.5:n.865G=
ENST00000579546.1:c.484G=
ENST00000583074.5:n.300-3G=
ENST00000583848.5:c.115G=	ENSP00000466487.1:p.Glu39=
ENST00000583850.5:n.520G=
ENST00000583858.5:c.680G=
ENST00000585203.6:n.940G=
NM_000018.3:c.1749G=	NP_000009.1:p.Ser583=
NM_001033859.2:c.1683G=	NP_001029031.1:p.Ser561=
NM_001270447.1:c.1818G=	NP_001257376.1:p.Ser606=
NM_001270448.1:c.1521G=	NP_001257377.1:p.Ser507=
XM_006721516.2:c.1679-3G=	XP_006721579.2:n.1679-3G=
XM_011523829.1:c.1577-3G=	XP_011522131.1:n.1577-3G=
XM_011523830.1:c.1647G=	XP_011522132.1:p.Ser549=
XR_934021.1:n.1852G=
XR_934022.1:n.1758G=
XR_934023.1:n.1688-3G=
XM_006721516.3:c.1679-3G=	XP_006721579.2:n.1679-3G=
XM_011523829.2:c.1577-3G=	XP_011522131.1:n.1577-3G=
XM_011523830.2:c.1647G=	XP_011522132.1:p.Ser549=
XM_024450741.1:c.1737G=	XP_024306509.1:p.Ser579=
XR_934021.2:n.1804G=
XR_934022.2:n.1710G=
XR_934023.2:n.1640-3G=
NM_000018.4:c.1749G= MANE Select	NP_000009.1:p.Ser583=
NM_001033859.3:c.1683G=	NP_001029031.1:p.Ser561=
NM_001270447.2:c.1818G=	NP_001257376.1:p.Ser606=
NM_001270448.2:c.1521G=	NP_001257377.1:p.Ser507=