Canonical Allele Identifier: CA2245715298
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224730G= , CM000679.2:g.7224730G= GRCh38
NC_000017.10:g.7128049G= , CM000679.1:g.7128049G= GRCh37
NC_000017.9:g.7068773G= NCBI36
NG_007975.1:g.9897G=
NG_008391.2:g.321C=
NG_033038.1:g.14815C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1751+16G= MANE Select ENSP00000349297.5:n.1751+16G=
ENST00000322910.9:c.*1706+16G= ENSP00000325395.5:n.*1706+16G=
ENST00000350303.9:c.1685+16G= ENSP00000344152.5:n.1685+16G=
ENST00000356839.9:c.1751+16G= ENSP00000349297.5:n.1751+16G=
ENST00000542255.6:c.552G=
ENST00000543245.6:c.1820+16G= ENSP00000438689.2:n.1820+16G=
ENST00000578033.1:n.98G=
ENST00000578319.5:n.332+16G=
ENST00000578711.1:n.1226G=
ENST00000578809.5:n.323+16G=
ENST00000579425.5:n.867+16G=
ENST00000579546.1:c.486+16G=
ENST00000583074.5:n.315G=
ENST00000583848.5:c.117+16G= ENSP00000466487.1:n.117+16G=
ENST00000583850.5:n.522+16G=
ENST00000583858.5:c.682+16G=
ENST00000585203.6:n.942+16G=
NM_000018.3:c.1751+16G= NP_000009.1:n.1751+16G=
NM_001033859.2:c.1685+16G= NP_001029031.1:n.1685+16G=
NM_001270447.1:c.1820+16G= NP_001257376.1:n.1820+16G=
NM_001270448.1:c.1523+16G= NP_001257377.1:n.1523+16G=
XM_006721516.2:c.1694G= XP_006721579.2:p.Arg565=
XM_011523829.1:c.1592G= XP_011522131.1:p.Arg531=
XM_011523830.1:c.1649+16G= XP_011522132.1:n.1649+16G=
XR_934021.1:n.1854+16G=
XR_934022.1:n.1760+16G=
XR_934023.1:n.1703G=
XM_006721516.3:c.1694G= XP_006721579.2:p.Arg565=
XM_011523829.2:c.1592G= XP_011522131.1:p.Arg531=
XM_011523830.2:c.1649+16G= XP_011522132.1:n.1649+16G=
XM_024450741.1:c.1739+16G= XP_024306509.1:n.1739+16G=
XR_934021.2:n.1806+16G=
XR_934022.2:n.1712+16G=
XR_934023.2:n.1655G=
NM_000018.4:c.1751+16G= MANE Select NP_000009.1:n.1751+16G=
NM_001033859.3:c.1685+16G= NP_001029031.1:n.1685+16G=
NM_001270447.2:c.1820+16G= NP_001257376.1:n.1820+16G=
NM_001270448.2:c.1523+16G= NP_001257377.1:n.1523+16G=