Canonical Allele Identifier: CA2245716238

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225007G= , CM000679.2:g.7225007G=	GRCh38
NC_000017.10:g.7128326G= , CM000679.1:g.7128326G=	GRCh37
NC_000017.9:g.7069050G=	NCBI36
NG_007975.1:g.10174G=
NG_008391.2:g.44C=
NG_033038.1:g.14538C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1878G= MANE Select	ENSP00000349297.5:p.Trp626=
ENST00000322910.9:c.*1833G=	ENSP00000325395.5:n.*1833G=
ENST00000350303.9:c.1812G=	ENSP00000344152.5:p.Trp604=
ENST00000356839.9:c.1878G=	ENSP00000349297.5:p.Trp626=
ENST00000542255.6:c.757G=
ENST00000543245.6:c.1947G=	ENSP00000438689.2:p.Trp649=
ENST00000578033.1:n.303G=
ENST00000578319.5:n.459G=
ENST00000578711.1:n.1503G=
ENST00000578809.5:n.450G=
ENST00000579425.5:n.994G=
ENST00000583848.5:c.244G=	ENSP00000466487.1:n.244G=
ENST00000583850.5:n.649G=
ENST00000583858.5:c.809G=
NM_000018.3:c.1878G=	NP_000009.1:p.Trp626=
NM_001033859.2:c.1812G=	NP_001029031.1:p.Trp604=
NM_001270447.1:c.1947G=	NP_001257376.1:p.Trp649=
NM_001270448.1:c.1650G=	NP_001257377.1:p.Trp550=
XM_006721516.2:c.1899G=	XP_006721579.2:p.Trp633=
XM_011523829.1:c.1797G=	XP_011522131.1:p.Trp599=
XM_011523830.1:c.1776G=	XP_011522132.1:p.Trp592=
XR_934021.1:n.1981G=
XR_934022.1:n.1887G=
XR_934023.1:n.1908G=
XM_006721516.3:c.1899G=	XP_006721579.2:p.Trp633=
XM_011523829.2:c.1797G=	XP_011522131.1:p.Trp599=
XM_011523830.2:c.1776G=	XP_011522132.1:p.Trp592=
XM_024450741.1:c.1866G=	XP_024306509.1:p.Trp622=
XR_934021.2:n.1933G=
XR_934022.2:n.1839G=
XR_934023.2:n.1860G=
NM_000018.4:c.1878G= MANE Select	NP_000009.1:p.Trp626=
NM_001033859.3:c.1812G=	NP_001029031.1:p.Trp604=
NM_001270447.2:c.1947G=	NP_001257376.1:p.Trp649=
NM_001270448.2:c.1650G=	NP_001257377.1:p.Trp550=