Canonical Allele Identifier: CA2245714598

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224542G= , CM000679.2:g.7224542G=	GRCh38
NC_000017.10:g.7127861G= , CM000679.1:g.7127861G=	GRCh37
NC_000017.9:g.7068585G=	NCBI36
NG_007975.1:g.9709G=
NG_008391.2:g.509C=
NG_033038.1:g.15003C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1668G= MANE Select	ENSP00000349297.5:p.Lys556=
ENST00000322910.9:c.*1623G=	ENSP00000325395.5:n.*1623G=
ENST00000350303.9:c.1602G=	ENSP00000344152.5:p.Lys534=
ENST00000356839.9:c.1668G=	ENSP00000349297.5:p.Lys556=
ENST00000542255.6:c.526G=
ENST00000543245.6:c.1737G=	ENSP00000438689.2:p.Lys579=
ENST00000578319.5:n.249G=
ENST00000578711.1:n.1038G=
ENST00000578809.5:n.240G=
ENST00000579391.1:n.272G=
ENST00000579425.5:n.784G=
ENST00000579546.1:c.403G=
ENST00000582450.1:n.176G=
ENST00000583074.5:n.289G=
ENST00000583848.5:c.54G=	ENSP00000466487.1:p.Lys18=
ENST00000583850.5:n.439G=
ENST00000583858.5:c.599G=
ENST00000585203.6:n.859G=
NM_000018.3:c.1668G=	NP_000009.1:p.Lys556=
NM_001033859.2:c.1602G=	NP_001029031.1:p.Lys534=
NM_001270447.1:c.1737G=	NP_001257376.1:p.Lys579=
NM_001270448.1:c.1440G=	NP_001257377.1:p.Lys480=
XM_006721516.2:c.1668G=	XP_006721579.2:p.Lys556=
XM_011523829.1:c.1566G=	XP_011522131.1:p.Lys522=
XM_011523830.1:c.1566G=	XP_011522132.1:p.Lys522=
XR_934021.1:n.1771G=
XR_934022.1:n.1677G=
XR_934023.1:n.1677G=
XM_006721516.3:c.1668G=	XP_006721579.2:p.Lys556=
XM_011523829.2:c.1566G=	XP_011522131.1:p.Lys522=
XM_011523830.2:c.1566G=	XP_011522132.1:p.Lys522=
XM_024450741.1:c.1656G=	XP_024306509.1:p.Lys552=
XR_934021.2:n.1723G=
XR_934022.2:n.1629G=
XR_934023.2:n.1629G=
NM_000018.4:c.1668G= MANE Select	NP_000009.1:p.Lys556=
NM_001033859.3:c.1602G=	NP_001029031.1:p.Lys534=
NM_001270447.2:c.1737G=	NP_001257376.1:p.Lys579=
NM_001270448.2:c.1440G=	NP_001257377.1:p.Lys480=