Canonical Allele Identifier: CA2245714015
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224388G= , CM000679.2:g.7224388G= GRCh38
NC_000017.10:g.7127707G= , CM000679.1:g.7127707G= GRCh37
NC_000017.9:g.7068431G= NCBI36
NG_007975.1:g.9555G=
NG_008391.2:g.663C=
NG_033038.1:g.15157C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1600G= MANE Select ENSP00000349297.5:p.Glu534=
ENST00000322910.9:c.*1555G= ENSP00000325395.5:n.*1555G=
ENST00000350303.9:c.1534G= ENSP00000344152.5:p.Glu512=
ENST00000356839.9:c.1600G= ENSP00000349297.5:p.Glu534=
ENST00000542255.6:c.458G=
ENST00000543245.6:c.1669G= ENSP00000438689.2:p.Glu557=
ENST00000578319.5:n.95G=
ENST00000578711.1:n.884G=
ENST00000578809.5:n.172G=
ENST00000579391.1:n.208G=
ENST00000579425.5:n.716G=
ENST00000579546.1:c.339G=
ENST00000579894.5:n.387G=
ENST00000582450.1:n.108G=
ENST00000583074.5:n.221G=
ENST00000583850.5:n.375G=
ENST00000583858.5:c.531G=
ENST00000585203.6:n.791G=
NM_000018.3:c.1600G= NP_000009.1:p.Glu534=
NM_001033859.2:c.1534G= NP_001029031.1:p.Glu512=
NM_001270447.1:c.1669G= NP_001257376.1:p.Glu557=
NM_001270448.1:c.1372G= NP_001257377.1:p.Glu458=
XM_006721516.2:c.1600G= XP_006721579.2:p.Glu534=
XM_011523829.1:c.1502G= XP_011522131.1:p.Arg501=
XM_011523830.1:c.1502G= XP_011522132.1:p.Arg501=
XR_934021.1:n.1707G=
XR_934022.1:n.1609G=
XR_934023.1:n.1609G=
XM_006721516.3:c.1600G= XP_006721579.2:p.Glu534=
XM_011523829.2:c.1502G= XP_011522131.1:p.Arg501=
XM_011523830.2:c.1502G= XP_011522132.1:p.Arg501=
XM_024450741.1:c.1502G= XP_024306509.1:p.Arg501=
XR_934021.2:n.1659G=
XR_934022.2:n.1561G=
XR_934023.2:n.1561G=
NM_000018.4:c.1600G= MANE Select NP_000009.1:p.Glu534=
NM_001033859.3:c.1534G= NP_001029031.1:p.Glu512=
NM_001270447.2:c.1669G= NP_001257376.1:p.Glu557=
NM_001270448.2:c.1372G= NP_001257377.1:p.Glu458=