Canonical Allele Identifier: CA2245701497
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222281G= , CM000679.2:g.7222281G= GRCh38
NC_000017.10:g.7125600G= , CM000679.1:g.7125600G= GRCh37
NC_000017.9:g.7066324G= NCBI36
NG_007975.1:g.7448G=
NG_008391.2:g.2770C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.857G= MANE Select ENSP00000349297.5:p.Arg286=
ENST00000322910.9:c.*812G= ENSP00000325395.5:n.*812G=
ENST00000350303.9:c.791G= ENSP00000344152.5:p.Arg264=
ENST00000356839.9:c.857G= ENSP00000349297.5:p.Arg286=
ENST00000543245.6:c.926G= ENSP00000438689.2:p.Arg309=
ENST00000577191.5:n.1029G=
ENST00000581378.5:c.575G=
ENST00000582379.1:n.241G=
NM_000018.3:c.857G= NP_000009.1:p.Arg286=
NM_001033859.2:c.791G= NP_001029031.1:p.Arg264=
NM_001270447.1:c.926G= NP_001257376.1:p.Arg309=
NM_001270448.1:c.629G= NP_001257377.1:p.Arg210=
XM_006721516.2:c.857G= XP_006721579.2:p.Arg286=
XM_011523829.1:c.857G= XP_011522131.1:p.Arg286=
XM_011523830.1:c.857G= XP_011522132.1:p.Arg286=
XR_934021.1:n.964G=
XR_934022.1:n.964G=
XR_934023.1:n.964G=
XM_006721516.3:c.857G= XP_006721579.2:p.Arg286=
XM_011523829.2:c.857G= XP_011522131.1:p.Arg286=
XM_011523830.2:c.857G= XP_011522132.1:p.Arg286=
XM_024450741.1:c.857G= XP_024306509.1:p.Arg286=
XR_934021.2:n.916G=
XR_934022.2:n.916G=
XR_934023.2:n.916G=
NM_000018.4:c.857G= MANE Select NP_000009.1:p.Arg286=
NM_001033859.3:c.791G= NP_001029031.1:p.Arg264=
NM_001270447.2:c.926G= NP_001257376.1:p.Arg309=
NM_001270448.2:c.629G= NP_001257377.1:p.Arg210=