Canonical Allele Identifier: CA2245709264

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222688G= , CM000679.2:g.7222688G=	GRCh38
NC_000017.10:g.7126007G= , CM000679.1:g.7126007G=	GRCh37
NC_000017.9:g.7066731G=	NCBI36
NG_007975.1:g.7855G=
NG_008391.2:g.2363C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.900G= MANE Select	ENSP00000349297.5:p.Met300=
ENST00000322910.9:c.*855G=	ENSP00000325395.5:n.*855G=
ENST00000350303.9:c.834G=	ENSP00000344152.5:p.Met278=
ENST00000356839.9:c.900G=	ENSP00000349297.5:p.Met300=
ENST00000543245.6:c.969G=	ENSP00000438689.2:p.Met323=
ENST00000578824.5:n.49G=
ENST00000581378.5:c.618G=
ENST00000582379.1:n.284G=
NM_000018.3:c.900G=	NP_000009.1:p.Met300=
NM_001033859.2:c.834G=	NP_001029031.1:p.Met278=
NM_001270447.1:c.969G=	NP_001257376.1:p.Met323=
NM_001270448.1:c.672G=	NP_001257377.1:p.Met224=
XM_006721516.2:c.900G=	XP_006721579.2:p.Met300=
XM_011523829.1:c.900G=	XP_011522131.1:p.Met300=
XM_011523830.1:c.900G=	XP_011522132.1:p.Met300=
XR_934021.1:n.1007G=
XR_934022.1:n.1007G=
XR_934023.1:n.1007G=
XM_006721516.3:c.900G=	XP_006721579.2:p.Met300=
XM_011523829.2:c.900G=	XP_011522131.1:p.Met300=
XM_011523830.2:c.900G=	XP_011522132.1:p.Met300=
XM_024450741.1:c.900G=	XP_024306509.1:p.Met300=
XR_934021.2:n.959G=
XR_934022.2:n.959G=
XR_934023.2:n.959G=
NM_000018.4:c.900G= MANE Select	NP_000009.1:p.Met300=
NM_001033859.3:c.834G=	NP_001029031.1:p.Met278=
NM_001270447.2:c.969G=	NP_001257376.1:p.Met323=
NM_001270448.2:c.672G=	NP_001257377.1:p.Met224=