Canonical Allele Identifier: CA2245700912
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222014C= , CM000679.2:g.7222014C= GRCh38
NC_000017.10:g.7125333C= , CM000679.1:g.7125333C= GRCh37
NC_000017.9:g.7066057C= NCBI36
NG_007975.1:g.7181C=
NG_008391.2:g.3037G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.685C= MANE Select ENSP00000349297.5:p.Arg229=
ENST00000322910.9:c.*640C= ENSP00000325395.5:n.*640C=
ENST00000350303.9:c.619C= ENSP00000344152.5:p.Arg207=
ENST00000356839.9:c.685C= ENSP00000349297.5:p.Arg229=
ENST00000543245.6:c.754C= ENSP00000438689.2:p.Arg252=
ENST00000577191.5:n.762C=
ENST00000577857.5:n.501C=
ENST00000579286.5:n.866C=
ENST00000580365.1:n.416C=
ENST00000581378.5:c.403C=
ENST00000582379.1:n.69C=
ENST00000583760.1:n.467C=
NM_000018.3:c.685C= NP_000009.1:p.Arg229=
NM_001033859.2:c.619C= NP_001029031.1:p.Arg207=
NM_001270447.1:c.754C= NP_001257376.1:p.Arg252=
NM_001270448.1:c.457C= NP_001257377.1:p.Arg153=
XM_006721516.2:c.685C= XP_006721579.2:p.Arg229=
XM_011523829.1:c.685C= XP_011522131.1:p.Arg229=
XM_011523830.1:c.685C= XP_011522132.1:p.Arg229=
XR_934021.1:n.792C=
XR_934022.1:n.792C=
XR_934023.1:n.792C=
XM_006721516.3:c.685C= XP_006721579.2:p.Arg229=
XM_011523829.2:c.685C= XP_011522131.1:p.Arg229=
XM_011523830.2:c.685C= XP_011522132.1:p.Arg229=
XM_024450741.1:c.685C= XP_024306509.1:p.Arg229=
XR_934021.2:n.744C=
XR_934022.2:n.744C=
XR_934023.2:n.744C=
NM_000018.4:c.685C= MANE Select NP_000009.1:p.Arg229=
NM_001033859.3:c.619C= NP_001029031.1:p.Arg207=
NM_001270447.2:c.754C= NP_001257376.1:p.Arg252=
NM_001270448.2:c.457C= NP_001257377.1:p.Arg153=