Canonical Allele Identifier: CA2245716202

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225001C= , CM000679.2:g.7225001C=	GRCh38
NC_000017.10:g.7128320C= , CM000679.1:g.7128320C=	GRCh37
NC_000017.9:g.7069044C=	NCBI36
NG_007975.1:g.10168C=
NG_008391.2:g.50G=
NG_033038.1:g.14544G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1872C= MANE Select	ENSP00000349297.5:p.Asp624=
ENST00000322910.9:c.*1827C=	ENSP00000325395.5:n.*1827C=
ENST00000350303.9:c.1806C=	ENSP00000344152.5:p.Asp602=
ENST00000356839.9:c.1872C=	ENSP00000349297.5:p.Asp624=
ENST00000542255.6:c.751C=
ENST00000543245.6:c.1941C=	ENSP00000438689.2:p.Asp647=
ENST00000578033.1:n.297C=
ENST00000578319.5:n.453C=
ENST00000578711.1:n.1497C=
ENST00000578809.5:n.444C=
ENST00000579425.5:n.988C=
ENST00000583848.5:c.238C=	ENSP00000466487.1:n.238C=
ENST00000583850.5:n.643C=
ENST00000583858.5:c.803C=
NM_000018.3:c.1872C=	NP_000009.1:p.Asp624=
NM_001033859.2:c.1806C=	NP_001029031.1:p.Asp602=
NM_001270447.1:c.1941C=	NP_001257376.1:p.Asp647=
NM_001270448.1:c.1644C=	NP_001257377.1:p.Asp548=
XM_006721516.2:c.1893C=	XP_006721579.2:p.Asp631=
XM_011523829.1:c.1791C=	XP_011522131.1:p.Asp597=
XM_011523830.1:c.1770C=	XP_011522132.1:p.Asp590=
XR_934021.1:n.1975C=
XR_934022.1:n.1881C=
XR_934023.1:n.1902C=
XM_006721516.3:c.1893C=	XP_006721579.2:p.Asp631=
XM_011523829.2:c.1791C=	XP_011522131.1:p.Asp597=
XM_011523830.2:c.1770C=	XP_011522132.1:p.Asp590=
XM_024450741.1:c.1860C=	XP_024306509.1:p.Asp620=
XR_934021.2:n.1927C=
XR_934022.2:n.1833C=
XR_934023.2:n.1854C=
NM_000018.4:c.1872C= MANE Select	NP_000009.1:p.Asp624=
NM_001033859.3:c.1806C=	NP_001029031.1:p.Asp602=
NM_001270447.2:c.1941C=	NP_001257376.1:p.Asp647=
NM_001270448.2:c.1644C=	NP_001257377.1:p.Asp548=