Canonical Allele Identifier: CA2245714029

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224393G= , CM000679.2:g.7224393G=	GRCh38
NC_000017.10:g.7127712G= , CM000679.1:g.7127712G=	GRCh37
NC_000017.9:g.7068436G=	NCBI36
NG_007975.1:g.9560G=
NG_008391.2:g.658C=
NG_033038.1:g.15152C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1605G= MANE Select	ENSP00000349297.5:p.Leu535=
ENST00000322910.9:c.*1560G=	ENSP00000325395.5:n.*1560G=
ENST00000350303.9:c.1539G=	ENSP00000344152.5:p.Leu513=
ENST00000356839.9:c.1605G=	ENSP00000349297.5:p.Leu535=
ENST00000542255.6:c.463G=
ENST00000543245.6:c.1674G=	ENSP00000438689.2:p.Leu558=
ENST00000578319.5:n.100G=
ENST00000578711.1:n.889G=
ENST00000578809.5:n.177G=
ENST00000579391.1:n.213G=
ENST00000579425.5:n.721G=
ENST00000579546.1:c.344G=
ENST00000579894.5:n.392G=
ENST00000582450.1:n.113G=
ENST00000583074.5:n.226G=
ENST00000583850.5:n.380G=
ENST00000583858.5:c.536G=
ENST00000585203.6:n.796G=
NM_000018.3:c.1605G=	NP_000009.1:p.Leu535=
NM_001033859.2:c.1539G=	NP_001029031.1:p.Leu513=
NM_001270447.1:c.1674G=	NP_001257376.1:p.Leu558=
NM_001270448.1:c.1377G=	NP_001257377.1:p.Leu459=
XM_006721516.2:c.1605G=	XP_006721579.2:p.Leu535=
XM_011523829.1:c.1507G=	XP_011522131.1:p.Val503=
XM_011523830.1:c.1507G=	XP_011522132.1:p.Val503=
XR_934021.1:n.1712G=
XR_934022.1:n.1614G=
XR_934023.1:n.1614G=
XM_006721516.3:c.1605G=	XP_006721579.2:p.Leu535=
XM_011523829.2:c.1507G=	XP_011522131.1:p.Val503=
XM_011523830.2:c.1507G=	XP_011522132.1:p.Val503=
XM_024450741.1:c.1507G=	XP_024306509.1:p.Gly503=
XR_934021.2:n.1664G=
XR_934022.2:n.1566G=
XR_934023.2:n.1566G=
NM_000018.4:c.1605G= MANE Select	NP_000009.1:p.Leu535=
NM_001033859.3:c.1539G=	NP_001029031.1:p.Leu513=
NM_001270447.2:c.1674G=	NP_001257376.1:p.Leu558=
NM_001270448.2:c.1377G=	NP_001257377.1:p.Leu459=