Canonical Allele Identifier: CA2245716198

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224999G= , CM000679.2:g.7224999G=	GRCh38
NC_000017.10:g.7128318G= , CM000679.1:g.7128318G=	GRCh37
NC_000017.9:g.7069042G=	NCBI36
NG_007975.1:g.10166G=
NG_008391.2:g.52C=
NG_033038.1:g.14546C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1870G= MANE Select	ENSP00000349297.5:p.Asp624=
ENST00000322910.9:c.*1825G=	ENSP00000325395.5:n.*1825G=
ENST00000350303.9:c.1804G=	ENSP00000344152.5:p.Asp602=
ENST00000356839.9:c.1870G=	ENSP00000349297.5:p.Asp624=
ENST00000542255.6:c.749G=
ENST00000543245.6:c.1939G=	ENSP00000438689.2:p.Asp647=
ENST00000578033.1:n.295G=
ENST00000578319.5:n.451G=
ENST00000578711.1:n.1495G=
ENST00000578809.5:n.442G=
ENST00000579425.5:n.986G=
ENST00000583848.5:c.236G=	ENSP00000466487.1:n.236G=
ENST00000583850.5:n.641G=
ENST00000583858.5:c.801G=
NM_000018.3:c.1870G=	NP_000009.1:p.Asp624=
NM_001033859.2:c.1804G=	NP_001029031.1:p.Asp602=
NM_001270447.1:c.1939G=	NP_001257376.1:p.Asp647=
NM_001270448.1:c.1642G=	NP_001257377.1:p.Asp548=
XM_006721516.2:c.1891G=	XP_006721579.2:p.Asp631=
XM_011523829.1:c.1789G=	XP_011522131.1:p.Asp597=
XM_011523830.1:c.1768G=	XP_011522132.1:p.Asp590=
XR_934021.1:n.1973G=
XR_934022.1:n.1879G=
XR_934023.1:n.1900G=
XM_006721516.3:c.1891G=	XP_006721579.2:p.Asp631=
XM_011523829.2:c.1789G=	XP_011522131.1:p.Asp597=
XM_011523830.2:c.1768G=	XP_011522132.1:p.Asp590=
XM_024450741.1:c.1858G=	XP_024306509.1:p.Asp620=
XR_934021.2:n.1925G=
XR_934022.2:n.1831G=
XR_934023.2:n.1852G=
NM_000018.4:c.1870G= MANE Select	NP_000009.1:p.Asp624=
NM_001033859.3:c.1804G=	NP_001029031.1:p.Asp602=
NM_001270447.2:c.1939G=	NP_001257376.1:p.Asp647=
NM_001270448.2:c.1642G=	NP_001257377.1:p.Asp548=