Canonical Allele Identifier: CA2245713733
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224321G= , CM000679.2:g.7224321G= GRCh38
NC_000017.10:g.7127640G= , CM000679.1:g.7127640G= GRCh37
NC_000017.9:g.7068364G= NCBI36
NG_007975.1:g.9488G=
NG_008391.2:g.730C=
NG_033038.1:g.15224C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1533G= MANE Select ENSP00000349297.5:p.Arg511=
ENST00000322910.9:c.*1488G= ENSP00000325395.5:n.*1488G=
ENST00000350303.9:c.1467G= ENSP00000344152.5:p.Arg489=
ENST00000356839.9:c.1533G= ENSP00000349297.5:p.Arg511=
ENST00000542255.6:c.391G=
ENST00000543245.6:c.1602G= ENSP00000438689.2:p.Arg534=
ENST00000578319.5:n.28G=
ENST00000578711.1:n.817G=
ENST00000578809.5:n.105G=
ENST00000579391.1:n.141G=
ENST00000579425.5:n.649G=
ENST00000579546.1:c.272G=
ENST00000579894.5:n.320G=
ENST00000582450.1:n.41G=
ENST00000583074.5:n.154G=
ENST00000583850.5:n.308G=
ENST00000583858.5:c.464G=
ENST00000585203.6:n.724G=
NM_000018.3:c.1533G= NP_000009.1:p.Arg511=
NM_001033859.2:c.1467G= NP_001029031.1:p.Arg489=
NM_001270447.1:c.1602G= NP_001257376.1:p.Arg534=
NM_001270448.1:c.1305G= NP_001257377.1:p.Arg435=
XM_006721516.2:c.1533G= XP_006721579.2:p.Arg511=
XM_011523829.1:c.1435G= XP_011522131.1:p.Ala479=
XM_011523830.1:c.1435G= XP_011522132.1:p.Ala479=
XR_934021.1:n.1640G=
XR_934022.1:n.1542G=
XR_934023.1:n.1542G=
XM_006721516.3:c.1533G= XP_006721579.2:p.Arg511=
XM_011523829.2:c.1435G= XP_011522131.1:p.Ala479=
XM_011523830.2:c.1435G= XP_011522132.1:p.Ala479=
XM_024450741.1:c.1435G= XP_024306509.1:p.Ala479=
XR_934021.2:n.1592G=
XR_934022.2:n.1494G=
XR_934023.2:n.1494G=
NM_000018.4:c.1533G= MANE Select NP_000009.1:p.Arg511=
NM_001033859.3:c.1467G= NP_001029031.1:p.Arg489=
NM_001270447.2:c.1602G= NP_001257376.1:p.Arg534=
NM_001270448.2:c.1305G= NP_001257377.1:p.Arg435=