Canonical Allele Identifier: CA2245716108

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224978G= , CM000679.2:g.7224978G=	GRCh38
NC_000017.10:g.7128297G= , CM000679.1:g.7128297G=	GRCh37
NC_000017.9:g.7069021G=	NCBI36
NG_007975.1:g.10145G=
NG_008391.2:g.73C=
NG_033038.1:g.14567C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1849G= MANE Select	ENSP00000349297.5:p.Gly617=
ENST00000322910.9:c.*1804G=	ENSP00000325395.5:n.*1804G=
ENST00000350303.9:c.1783G=	ENSP00000344152.5:p.Gly595=
ENST00000356839.9:c.1849G=	ENSP00000349297.5:p.Gly617=
ENST00000542255.6:c.728G=
ENST00000543245.6:c.1918G=	ENSP00000438689.2:p.Gly640=
ENST00000578033.1:n.274G=
ENST00000578319.5:n.430G=
ENST00000578711.1:n.1474G=
ENST00000578809.5:n.421G=
ENST00000579425.5:n.965G=
ENST00000583848.5:c.215G=	ENSP00000466487.1:n.215G=
ENST00000583850.5:n.620G=
ENST00000583858.5:c.780G=
NM_000018.3:c.1849G=	NP_000009.1:p.Gly617=
NM_001033859.2:c.1783G=	NP_001029031.1:p.Gly595=
NM_001270447.1:c.1918G=	NP_001257376.1:p.Gly640=
NM_001270448.1:c.1621G=	NP_001257377.1:p.Gly541=
XM_006721516.2:c.1870G=	XP_006721579.2:p.Gly624=
XM_011523829.1:c.1768G=	XP_011522131.1:p.Gly590=
XM_011523830.1:c.1747G=	XP_011522132.1:p.Gly583=
XR_934021.1:n.1952G=
XR_934022.1:n.1858G=
XR_934023.1:n.1879G=
XM_006721516.3:c.1870G=	XP_006721579.2:p.Gly624=
XM_011523829.2:c.1768G=	XP_011522131.1:p.Gly590=
XM_011523830.2:c.1747G=	XP_011522132.1:p.Gly583=
XM_024450741.1:c.1837G=	XP_024306509.1:p.Gly613=
XR_934021.2:n.1904G=
XR_934022.2:n.1810G=
XR_934023.2:n.1831G=
NM_000018.4:c.1849G= MANE Select	NP_000009.1:p.Gly617=
NM_001033859.3:c.1783G=	NP_001029031.1:p.Gly595=
NM_001270447.2:c.1918G=	NP_001257376.1:p.Gly640=
NM_001270448.2:c.1621G=	NP_001257377.1:p.Gly541=