Canonical Allele Identifier: CA2245715088

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224666T= , CM000679.2:g.7224666T=	GRCh38
NC_000017.10:g.7127985T= , CM000679.1:g.7127985T=	GRCh37
NC_000017.9:g.7068709T=	NCBI36
NG_007975.1:g.9833T=
NG_008391.2:g.385A=
NG_033038.1:g.14879A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1703T= MANE Select	ENSP00000349297.5:p.Leu568=
ENST00000322910.9:c.*1658T=	ENSP00000325395.5:n.*1658T=
ENST00000350303.9:c.1637T=	ENSP00000344152.5:p.Leu546=
ENST00000356839.9:c.1703T=	ENSP00000349297.5:p.Leu568=
ENST00000542255.6:c.537-49T=
ENST00000543245.6:c.1772T=	ENSP00000438689.2:p.Leu591=
ENST00000578033.1:n.34T=
ENST00000578319.5:n.284T=
ENST00000578711.1:n.1162T=
ENST00000578809.5:n.275T=
ENST00000579425.5:n.819T=
ENST00000579546.1:c.438T=
ENST00000583074.5:n.300-49T=
ENST00000583848.5:c.69T=	ENSP00000466487.1:p.Ala23=
ENST00000583850.5:n.474T=
ENST00000583858.5:c.634T=
ENST00000585203.6:n.894T=
NM_000018.3:c.1703T=	NP_000009.1:p.Leu568=
NM_001033859.2:c.1637T=	NP_001029031.1:p.Leu546=
NM_001270447.1:c.1772T=	NP_001257376.1:p.Leu591=
NM_001270448.1:c.1475T=	NP_001257377.1:p.Leu492=
XM_006721516.2:c.1679-49T=	XP_006721579.2:n.1679-49T=
XM_011523829.1:c.1577-49T=	XP_011522131.1:n.1577-49T=
XM_011523830.1:c.1601T=	XP_011522132.1:p.Leu534=
XR_934021.1:n.1806T=
XR_934022.1:n.1712T=
XR_934023.1:n.1688-49T=
XM_006721516.3:c.1679-49T=	XP_006721579.2:n.1679-49T=
XM_011523829.2:c.1577-49T=	XP_011522131.1:n.1577-49T=
XM_011523830.2:c.1601T=	XP_011522132.1:p.Leu534=
XM_024450741.1:c.1691T=	XP_024306509.1:p.Leu564=
XR_934021.2:n.1758T=
XR_934022.2:n.1664T=
XR_934023.2:n.1640-49T=
NM_000018.4:c.1703T= MANE Select	NP_000009.1:p.Leu568=
NM_001033859.3:c.1637T=	NP_001029031.1:p.Leu546=
NM_001270447.2:c.1772T=	NP_001257376.1:p.Leu591=
NM_001270448.2:c.1475T=	NP_001257377.1:p.Leu492=