Canonical Allele Identifier: CA2245715686

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224839C= , CM000679.2:g.7224839C=	GRCh38
NC_000017.10:g.7128158C= , CM000679.1:g.7128158C=	GRCh37
NC_000017.9:g.7068882C=	NCBI36
NG_007975.1:g.10006C=
NG_008391.2:g.212G=
NG_033038.1:g.14706G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1782C= MANE Select	ENSP00000349297.5:p.Pro594=
ENST00000322910.9:c.*1737C=	ENSP00000325395.5:n.*1737C=
ENST00000350303.9:c.1716C=	ENSP00000344152.5:p.Pro572=
ENST00000356839.9:c.1782C=	ENSP00000349297.5:p.Pro594=
ENST00000542255.6:c.661C=
ENST00000543245.6:c.1851C=	ENSP00000438689.2:p.Pro617=
ENST00000578033.1:n.207C=
ENST00000578319.5:n.363C=
ENST00000578711.1:n.1335C=
ENST00000578809.5:n.354C=
ENST00000579425.5:n.898C=
ENST00000579546.1:c.517C=
ENST00000583848.5:c.148C=	ENSP00000466487.1:n.148C=
ENST00000583850.5:n.553C=
ENST00000583858.5:c.713C=
NM_000018.3:c.1782C=	NP_000009.1:p.Pro594=
NM_001033859.2:c.1716C=	NP_001029031.1:p.Pro572=
NM_001270447.1:c.1851C=	NP_001257376.1:p.Pro617=
NM_001270448.1:c.1554C=	NP_001257377.1:p.Pro518=
XM_006721516.2:c.1803C=	XP_006721579.2:p.Pro601=
XM_011523829.1:c.1701C=	XP_011522131.1:p.Pro567=
XM_011523830.1:c.1680C=	XP_011522132.1:p.Pro560=
XR_934021.1:n.1885C=
XR_934022.1:n.1791C=
XR_934023.1:n.1812C=
XM_006721516.3:c.1803C=	XP_006721579.2:p.Pro601=
XM_011523829.2:c.1701C=	XP_011522131.1:p.Pro567=
XM_011523830.2:c.1680C=	XP_011522132.1:p.Pro560=
XM_024450741.1:c.1770C=	XP_024306509.1:p.Pro590=
XR_934021.2:n.1837C=
XR_934022.2:n.1743C=
XR_934023.2:n.1764C=
NM_000018.4:c.1782C= MANE Select	NP_000009.1:p.Pro594=
NM_001033859.3:c.1716C=	NP_001029031.1:p.Pro572=
NM_001270447.2:c.1851C=	NP_001257376.1:p.Pro617=
NM_001270448.2:c.1554C=	NP_001257377.1:p.Pro518=