Canonical Allele Identifier: CA2245715199

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224698G= , CM000679.2:g.7224698G=	GRCh38
NC_000017.10:g.7128017G= , CM000679.1:g.7128017G=	GRCh37
NC_000017.9:g.7068741G=	NCBI36
NG_007975.1:g.9865G=
NG_008391.2:g.353C=
NG_033038.1:g.14847C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1735G= MANE Select	ENSP00000349297.5:p.Val579=
ENST00000322910.9:c.*1690G=	ENSP00000325395.5:n.*1690G=
ENST00000350303.9:c.1669G=	ENSP00000344152.5:p.Val557=
ENST00000356839.9:c.1735G=	ENSP00000349297.5:p.Val579=
ENST00000542255.6:c.537-17G=
ENST00000543245.6:c.1804G=	ENSP00000438689.2:p.Val602=
ENST00000578033.1:n.66G=
ENST00000578319.5:n.316G=
ENST00000578711.1:n.1194G=
ENST00000578809.5:n.307G=
ENST00000579425.5:n.851G=
ENST00000579546.1:c.470G=
ENST00000583074.5:n.300-17G=
ENST00000583848.5:c.101G=	ENSP00000466487.1:p.Gly34=
ENST00000583850.5:n.506G=
ENST00000583858.5:c.666G=
ENST00000585203.6:n.926G=
NM_000018.3:c.1735G=	NP_000009.1:p.Val579=
NM_001033859.2:c.1669G=	NP_001029031.1:p.Val557=
NM_001270447.1:c.1804G=	NP_001257376.1:p.Val602=
NM_001270448.1:c.1507G=	NP_001257377.1:p.Val503=
XM_006721516.2:c.1679-17G=	XP_006721579.2:n.1679-17G=
XM_011523829.1:c.1577-17G=	XP_011522131.1:n.1577-17G=
XM_011523830.1:c.1633G=	XP_011522132.1:p.Val545=
XR_934021.1:n.1838G=
XR_934022.1:n.1744G=
XR_934023.1:n.1688-17G=
XM_006721516.3:c.1679-17G=	XP_006721579.2:n.1679-17G=
XM_011523829.2:c.1577-17G=	XP_011522131.1:n.1577-17G=
XM_011523830.2:c.1633G=	XP_011522132.1:p.Val545=
XM_024450741.1:c.1723G=	XP_024306509.1:p.Val575=
XR_934021.2:n.1790G=
XR_934022.2:n.1696G=
XR_934023.2:n.1640-17G=
NM_000018.4:c.1735G= MANE Select	NP_000009.1:p.Val579=
NM_001033859.3:c.1669G=	NP_001029031.1:p.Val557=
NM_001270447.2:c.1804G=	NP_001257376.1:p.Val602=
NM_001270448.2:c.1507G=	NP_001257377.1:p.Val503=