Canonical Allele Identifier: CA2245715663

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224833C= , CM000679.2:g.7224833C=	GRCh38
NC_000017.10:g.7128152C= , CM000679.1:g.7128152C=	GRCh37
NC_000017.9:g.7068876C=	NCBI36
NG_007975.1:g.10000C=
NG_008391.2:g.218G=
NG_033038.1:g.14712G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1776C= MANE Select	ENSP00000349297.5:p.Gly592=
ENST00000322910.9:c.*1731C=	ENSP00000325395.5:n.*1731C=
ENST00000350303.9:c.1710C=	ENSP00000344152.5:p.Gly570=
ENST00000356839.9:c.1776C=	ENSP00000349297.5:p.Gly592=
ENST00000542255.6:c.655C=
ENST00000543245.6:c.1845C=	ENSP00000438689.2:p.Gly615=
ENST00000578033.1:n.201C=
ENST00000578319.5:n.357C=
ENST00000578711.1:n.1329C=
ENST00000578809.5:n.348C=
ENST00000579425.5:n.892C=
ENST00000579546.1:c.511C=
ENST00000583848.5:c.142C=	ENSP00000466487.1:n.142C=
ENST00000583850.5:n.547C=
ENST00000583858.5:c.707C=
NM_000018.3:c.1776C=	NP_000009.1:p.Gly592=
NM_001033859.2:c.1710C=	NP_001029031.1:p.Gly570=
NM_001270447.1:c.1845C=	NP_001257376.1:p.Gly615=
NM_001270448.1:c.1548C=	NP_001257377.1:p.Gly516=
XM_006721516.2:c.1797C=	XP_006721579.2:p.Gly599=
XM_011523829.1:c.1695C=	XP_011522131.1:p.Gly565=
XM_011523830.1:c.1674C=	XP_011522132.1:p.Gly558=
XR_934021.1:n.1879C=
XR_934022.1:n.1785C=
XR_934023.1:n.1806C=
XM_006721516.3:c.1797C=	XP_006721579.2:p.Gly599=
XM_011523829.2:c.1695C=	XP_011522131.1:p.Gly565=
XM_011523830.2:c.1674C=	XP_011522132.1:p.Gly558=
XM_024450741.1:c.1764C=	XP_024306509.1:p.Gly588=
XR_934021.2:n.1831C=
XR_934022.2:n.1737C=
XR_934023.2:n.1758C=
NM_000018.4:c.1776C= MANE Select	NP_000009.1:p.Gly592=
NM_001033859.3:c.1710C=	NP_001029031.1:p.Gly570=
NM_001270447.2:c.1845C=	NP_001257376.1:p.Gly615=
NM_001270448.2:c.1548C=	NP_001257377.1:p.Gly516=