Canonical Allele Identifier: CA2245714532

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224525C= , CM000679.2:g.7224525C=	GRCh38
NC_000017.10:g.7127844C= , CM000679.1:g.7127844C=	GRCh37
NC_000017.9:g.7068568C=	NCBI36
NG_007975.1:g.9692C=
NG_008391.2:g.526G=
NG_033038.1:g.15020G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1651C= MANE Select	ENSP00000349297.5:p.Leu551=
ENST00000322910.9:c.*1606C=	ENSP00000325395.5:n.*1606C=
ENST00000350303.9:c.1585C=	ENSP00000344152.5:p.Leu529=
ENST00000356839.9:c.1651C=	ENSP00000349297.5:p.Leu551=
ENST00000542255.6:c.509C=
ENST00000543245.6:c.1720C=	ENSP00000438689.2:p.Leu574=
ENST00000578319.5:n.232C=
ENST00000578711.1:n.1021C=
ENST00000578809.5:n.223C=
ENST00000579391.1:n.255C=
ENST00000579425.5:n.767C=
ENST00000579546.1:c.386C=
ENST00000582450.1:n.159C=
ENST00000583074.5:n.272C=
ENST00000583848.5:c.37C=	ENSP00000466487.1:p.Leu13=
ENST00000583850.5:n.422C=
ENST00000583858.5:c.582C=
ENST00000585203.6:n.842C=
NM_000018.3:c.1651C=	NP_000009.1:p.Leu551=
NM_001033859.2:c.1585C=	NP_001029031.1:p.Leu529=
NM_001270447.1:c.1720C=	NP_001257376.1:p.Leu574=
NM_001270448.1:c.1423C=	NP_001257377.1:p.Leu475=
XM_006721516.2:c.1651C=	XP_006721579.2:p.Leu551=
XM_011523829.1:c.1549C=	XP_011522131.1:p.Leu517=
XM_011523830.1:c.1549C=	XP_011522132.1:p.Leu517=
XR_934021.1:n.1754C=
XR_934022.1:n.1660C=
XR_934023.1:n.1660C=
XM_006721516.3:c.1651C=	XP_006721579.2:p.Leu551=
XM_011523829.2:c.1549C=	XP_011522131.1:p.Leu517=
XM_011523830.2:c.1549C=	XP_011522132.1:p.Leu517=
XM_024450741.1:c.1639C=	XP_024306509.1:p.Leu547=
XR_934021.2:n.1706C=
XR_934022.2:n.1612C=
XR_934023.2:n.1612C=
NM_000018.4:c.1651C= MANE Select	NP_000009.1:p.Leu551=
NM_001033859.3:c.1585C=	NP_001029031.1:p.Leu529=
NM_001270447.2:c.1720C=	NP_001257376.1:p.Leu574=
NM_001270448.2:c.1423C=	NP_001257377.1:p.Leu475=