Canonical Allele Identifier: CA2245716320

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225029T= , CM000679.2:g.7225029T=	GRCh38
NC_000017.10:g.7128348T= , CM000679.1:g.7128348T=	GRCh37
NC_000017.9:g.7069072T=	NCBI36
NG_007975.1:g.10196T=
NG_008391.2:g.22A=
NG_033038.1:g.14516A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1900T= MANE Select	ENSP00000349297.5:p.Phe634=
ENST00000322910.9:c.*1855T=	ENSP00000325395.5:n.*1855T=
ENST00000350303.9:c.1834T=	ENSP00000344152.5:p.Phe612=
ENST00000356839.9:c.1900T=	ENSP00000349297.5:p.Phe634=
ENST00000542255.6:c.779T=
ENST00000543245.6:c.1969T=	ENSP00000438689.2:p.Phe657=
ENST00000578033.1:n.325T=
ENST00000578319.5:n.481T=
ENST00000578711.1:n.1525T=
ENST00000578809.5:n.472T=
ENST00000579425.5:n.1016T=
ENST00000583848.5:c.266T=	ENSP00000466487.1:n.266T=
ENST00000583850.5:n.671T=
ENST00000583858.5:c.831T=
NM_000018.3:c.1900T=	NP_000009.1:p.Phe634=
NM_001033859.2:c.1834T=	NP_001029031.1:p.Phe612=
NM_001270447.1:c.1969T=	NP_001257376.1:p.Phe657=
NM_001270448.1:c.1672T=	NP_001257377.1:p.Phe558=
XM_006721516.2:c.1921T=	XP_006721579.2:p.Phe641=
XM_011523829.1:c.1819T=	XP_011522131.1:p.Phe607=
XM_011523830.1:c.1798T=	XP_011522132.1:p.Phe600=
XR_934021.1:n.2003T=
XR_934022.1:n.1909T=
XR_934023.1:n.1930T=
XM_006721516.3:c.1921T=	XP_006721579.2:p.Phe641=
XM_011523829.2:c.1819T=	XP_011522131.1:p.Phe607=
XM_011523830.2:c.1798T=	XP_011522132.1:p.Phe600=
XM_024450741.1:c.1888T=	XP_024306509.1:p.Phe630=
XR_934021.2:n.1955T=
XR_934022.2:n.1861T=
XR_934023.2:n.1882T=
NM_000018.4:c.1900T= MANE Select	NP_000009.1:p.Phe634=
NM_001033859.3:c.1834T=	NP_001029031.1:p.Phe612=
NM_001270447.2:c.1969T=	NP_001257376.1:p.Phe657=
NM_001270448.2:c.1672T=	NP_001257377.1:p.Phe558=