Canonical Allele Identifier: CA2245709897

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222842A= , CM000679.2:g.7222842A=	GRCh38
NC_000017.10:g.7126161A= , CM000679.1:g.7126161A=	GRCh37
NC_000017.9:g.7066885A=	NCBI36
NG_007975.1:g.8009A=
NG_008391.2:g.2209T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1054A= MANE Select	ENSP00000349297.5:p.Met352=
ENST00000322910.9:c.*1009A=	ENSP00000325395.5:n.*1009A=
ENST00000350303.9:c.988A=	ENSP00000344152.5:p.Met330=
ENST00000356839.9:c.1054A=	ENSP00000349297.5:p.Met352=
ENST00000543245.6:c.1123A=	ENSP00000438689.2:p.Met375=
ENST00000578824.5:n.203A=
ENST00000582379.1:n.438A=
ENST00000583858.5:c.83A=
NM_000018.3:c.1054A=	NP_000009.1:p.Met352=
NM_001033859.2:c.988A=	NP_001029031.1:p.Met330=
NM_001270447.1:c.1123A=	NP_001257376.1:p.Met375=
NM_001270448.1:c.826A=	NP_001257377.1:p.Met276=
XM_006721516.2:c.1054A=	XP_006721579.2:p.Met352=
XM_011523829.1:c.1054A=	XP_011522131.1:p.Met352=
XM_011523830.1:c.1054A=	XP_011522132.1:p.Met352=
XR_934021.1:n.1161A=
XR_934022.1:n.1161A=
XR_934023.1:n.1161A=
XM_006721516.3:c.1054A=	XP_006721579.2:p.Met352=
XM_011523829.2:c.1054A=	XP_011522131.1:p.Met352=
XM_011523830.2:c.1054A=	XP_011522132.1:p.Met352=
XM_024450741.1:c.1054A=	XP_024306509.1:p.Met352=
XR_934021.2:n.1113A=
XR_934022.2:n.1113A=
XR_934023.2:n.1113A=
NM_000018.4:c.1054A= MANE Select	NP_000009.1:p.Met352=
NM_001033859.3:c.988A=	NP_001029031.1:p.Met330=
NM_001270447.2:c.1123A=	NP_001257376.1:p.Met375=
NM_001270448.2:c.826A=	NP_001257377.1:p.Met276=