Canonical Allele Identifier: CA2245716234

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225006G= , CM000679.2:g.7225006G=	GRCh38
NC_000017.10:g.7128325G= , CM000679.1:g.7128325G=	GRCh37
NC_000017.9:g.7069049G=	NCBI36
NG_007975.1:g.10173G=
NG_008391.2:g.45C=
NG_033038.1:g.14539C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1877G= MANE Select	ENSP00000349297.5:p.Trp626=
ENST00000322910.9:c.*1832G=	ENSP00000325395.5:n.*1832G=
ENST00000350303.9:c.1811G=	ENSP00000344152.5:p.Trp604=
ENST00000356839.9:c.1877G=	ENSP00000349297.5:p.Trp626=
ENST00000542255.6:c.756G=
ENST00000543245.6:c.1946G=	ENSP00000438689.2:p.Trp649=
ENST00000578033.1:n.302G=
ENST00000578319.5:n.458G=
ENST00000578711.1:n.1502G=
ENST00000578809.5:n.449G=
ENST00000579425.5:n.993G=
ENST00000583848.5:c.243G=	ENSP00000466487.1:n.243G=
ENST00000583850.5:n.648G=
ENST00000583858.5:c.808G=
NM_000018.3:c.1877G=	NP_000009.1:p.Trp626=
NM_001033859.2:c.1811G=	NP_001029031.1:p.Trp604=
NM_001270447.1:c.1946G=	NP_001257376.1:p.Trp649=
NM_001270448.1:c.1649G=	NP_001257377.1:p.Trp550=
XM_006721516.2:c.1898G=	XP_006721579.2:p.Trp633=
XM_011523829.1:c.1796G=	XP_011522131.1:p.Trp599=
XM_011523830.1:c.1775G=	XP_011522132.1:p.Trp592=
XR_934021.1:n.1980G=
XR_934022.1:n.1886G=
XR_934023.1:n.1907G=
XM_006721516.3:c.1898G=	XP_006721579.2:p.Trp633=
XM_011523829.2:c.1796G=	XP_011522131.1:p.Trp599=
XM_011523830.2:c.1775G=	XP_011522132.1:p.Trp592=
XM_024450741.1:c.1865G=	XP_024306509.1:p.Trp622=
XR_934021.2:n.1932G=
XR_934022.2:n.1838G=
XR_934023.2:n.1859G=
NM_000018.4:c.1877G= MANE Select	NP_000009.1:p.Trp626=
NM_001033859.3:c.1811G=	NP_001029031.1:p.Trp604=
NM_001270447.2:c.1946G=	NP_001257376.1:p.Trp649=
NM_001270448.2:c.1649G=	NP_001257377.1:p.Trp550=