Canonical Allele Identifier: CA2245712026

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223854G= , CM000679.2:g.7223854G=	GRCh38
NC_000017.10:g.7127173G= , CM000679.1:g.7127173G=	GRCh37
NC_000017.9:g.7067897G=	NCBI36
NG_007975.1:g.9021G=
NG_008391.2:g.1197C=
NG_033038.1:g.15691C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1311G= MANE Select	ENSP00000349297.5:p.Met437=
ENST00000322910.9:c.*1266G=	ENSP00000325395.5:n.*1266G=
ENST00000350303.9:c.1245G=	ENSP00000344152.5:p.Met415=
ENST00000356839.9:c.1311G=	ENSP00000349297.5:p.Met437=
ENST00000542255.6:c.169G=
ENST00000543245.6:c.1380G=	ENSP00000438689.2:p.Met460=
ENST00000578711.1:n.350G=
ENST00000579425.5:n.335G=
ENST00000579546.1:c.148G=
ENST00000583074.5:n.30G=
ENST00000583850.5:n.86G=
ENST00000583858.5:c.340G=
ENST00000585203.6:n.519G=
NM_000018.3:c.1311G=	NP_000009.1:p.Met437=
NM_001033859.2:c.1245G=	NP_001029031.1:p.Met415=
NM_001270447.1:c.1380G=	NP_001257376.1:p.Met460=
NM_001270448.1:c.1083G=	NP_001257377.1:p.Met361=
XM_006721516.2:c.1311G=	XP_006721579.2:p.Met437=
XM_011523829.1:c.1311G=	XP_011522131.1:p.Met437=
XM_011523830.1:c.1311G=	XP_011522132.1:p.Met437=
XR_934021.1:n.1418G=
XR_934022.1:n.1418G=
XR_934023.1:n.1418G=
XM_006721516.3:c.1311G=	XP_006721579.2:p.Met437=
XM_011523829.2:c.1311G=	XP_011522131.1:p.Met437=
XM_011523830.2:c.1311G=	XP_011522132.1:p.Met437=
XM_024450741.1:c.1311G=	XP_024306509.1:p.Met437=
XR_934021.2:n.1370G=
XR_934022.2:n.1370G=
XR_934023.2:n.1370G=
NM_000018.4:c.1311G= MANE Select	NP_000009.1:p.Met437=
NM_001033859.3:c.1245G=	NP_001029031.1:p.Met415=
NM_001270447.2:c.1380G=	NP_001257376.1:p.Met460=
NM_001270448.2:c.1083G=	NP_001257377.1:p.Met361=