Canonical Allele Identifier: CA2245716060
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224967G= , CM000679.2:g.7224967G= GRCh38
NC_000017.10:g.7128286G= , CM000679.1:g.7128286G= GRCh37
NC_000017.9:g.7069010G= NCBI36
NG_007975.1:g.10134G=
NG_008391.2:g.84C=
NG_033038.1:g.14578C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1838G= MANE Select ENSP00000349297.5:p.Arg613=
ENST00000322910.9:c.*1793G= ENSP00000325395.5:n.*1793G=
ENST00000350303.9:c.1772G= ENSP00000344152.5:p.Arg591=
ENST00000356839.9:c.1838G= ENSP00000349297.5:p.Arg613=
ENST00000542255.6:c.717G=
ENST00000543245.6:c.1907G= ENSP00000438689.2:p.Arg636=
ENST00000578033.1:n.263G=
ENST00000578319.5:n.419G=
ENST00000578711.1:n.1463G=
ENST00000578809.5:n.410G=
ENST00000579425.5:n.954G=
ENST00000579546.1:c.573G=
ENST00000583848.5:c.204G= ENSP00000466487.1:n.204G=
ENST00000583850.5:n.609G=
ENST00000583858.5:c.769G=
NM_000018.3:c.1838G= NP_000009.1:p.Arg613=
NM_001033859.2:c.1772G= NP_001029031.1:p.Arg591=
NM_001270447.1:c.1907G= NP_001257376.1:p.Arg636=
NM_001270448.1:c.1610G= NP_001257377.1:p.Arg537=
XM_006721516.2:c.1859G= XP_006721579.2:p.Arg620=
XM_011523829.1:c.1757G= XP_011522131.1:p.Arg586=
XM_011523830.1:c.1736G= XP_011522132.1:p.Arg579=
XR_934021.1:n.1941G=
XR_934022.1:n.1847G=
XR_934023.1:n.1868G=
XM_006721516.3:c.1859G= XP_006721579.2:p.Arg620=
XM_011523829.2:c.1757G= XP_011522131.1:p.Arg586=
XM_011523830.2:c.1736G= XP_011522132.1:p.Arg579=
XM_024450741.1:c.1826G= XP_024306509.1:p.Arg609=
XR_934021.2:n.1893G=
XR_934022.2:n.1799G=
XR_934023.2:n.1820G=
NM_000018.4:c.1838G= MANE Select NP_000009.1:p.Arg613=
NM_001033859.3:c.1772G= NP_001029031.1:p.Arg591=
NM_001270447.2:c.1907G= NP_001257376.1:p.Arg636=
NM_001270448.2:c.1610G= NP_001257377.1:p.Arg537=