Canonical Allele Identifier: CA2245715098

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224669C= , CM000679.2:g.7224669C=	GRCh38
NC_000017.10:g.7127988C= , CM000679.1:g.7127988C=	GRCh37
NC_000017.9:g.7068712C=	NCBI36
NG_007975.1:g.9836C=
NG_008391.2:g.382G=
NG_033038.1:g.14876G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1706C= MANE Select	ENSP00000349297.5:p.Ala569=
ENST00000322910.9:c.*1661C=	ENSP00000325395.5:n.*1661C=
ENST00000350303.9:c.1640C=	ENSP00000344152.5:p.Ala547=
ENST00000356839.9:c.1706C=	ENSP00000349297.5:p.Ala569=
ENST00000542255.6:c.537-46C=
ENST00000543245.6:c.1775C=	ENSP00000438689.2:p.Ala592=
ENST00000578033.1:n.37C=
ENST00000578319.5:n.287C=
ENST00000578711.1:n.1165C=
ENST00000578809.5:n.278C=
ENST00000579425.5:n.822C=
ENST00000579546.1:c.441C=
ENST00000583074.5:n.300-46C=
ENST00000583848.5:c.72C=	ENSP00000466487.1:p.Gly24=
ENST00000583850.5:n.477C=
ENST00000583858.5:c.637C=
ENST00000585203.6:n.897C=
NM_000018.3:c.1706C=	NP_000009.1:p.Ala569=
NM_001033859.2:c.1640C=	NP_001029031.1:p.Ala547=
NM_001270447.1:c.1775C=	NP_001257376.1:p.Ala592=
NM_001270448.1:c.1478C=	NP_001257377.1:p.Ala493=
XM_006721516.2:c.1679-46C=	XP_006721579.2:n.1679-46C=
XM_011523829.1:c.1577-46C=	XP_011522131.1:n.1577-46C=
XM_011523830.1:c.1604C=	XP_011522132.1:p.Ala535=
XR_934021.1:n.1809C=
XR_934022.1:n.1715C=
XR_934023.1:n.1688-46C=
XM_006721516.3:c.1679-46C=	XP_006721579.2:n.1679-46C=
XM_011523829.2:c.1577-46C=	XP_011522131.1:n.1577-46C=
XM_011523830.2:c.1604C=	XP_011522132.1:p.Ala535=
XM_024450741.1:c.1694C=	XP_024306509.1:p.Ala565=
XR_934021.2:n.1761C=
XR_934022.2:n.1667C=
XR_934023.2:n.1640-46C=
NM_000018.4:c.1706C= MANE Select	NP_000009.1:p.Ala569=
NM_001033859.3:c.1640C=	NP_001029031.1:p.Ala547=
NM_001270447.2:c.1775C=	NP_001257376.1:p.Ala592=
NM_001270448.2:c.1478C=	NP_001257377.1:p.Ala493=