Canonical Allele Identifier: CA2245715513
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224789C= , CM000679.2:g.7224789C= GRCh38
NC_000017.10:g.7128108C= , CM000679.1:g.7128108C= GRCh37
NC_000017.9:g.7068832C= NCBI36
NG_007975.1:g.9956C=
NG_008391.2:g.262G=
NG_033038.1:g.14756G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1752-20C= MANE Select ENSP00000349297.5:n.1752-20C=
ENST00000322910.9:c.*1707-20C= ENSP00000325395.5:n.*1707-20C=
ENST00000350303.9:c.1686-20C= ENSP00000344152.5:n.1686-20C=
ENST00000356839.9:c.1752-20C= ENSP00000349297.5:n.1752-20C=
ENST00000542255.6:c.611C=
ENST00000543245.6:c.1821-20C= ENSP00000438689.2:n.1821-20C=
ENST00000578033.1:n.157C=
ENST00000578319.5:n.333-20C=
ENST00000578711.1:n.1285C=
ENST00000578809.5:n.324-20C=
ENST00000579425.5:n.868-20C=
ENST00000579546.1:c.487-20C=
ENST00000583074.5:n.374C=
ENST00000583848.5:c.118-20C= ENSP00000466487.1:n.118-20C=
ENST00000583850.5:n.523-20C=
ENST00000583858.5:c.683-20C=
ENST00000585203.6:n.943-20C=
NM_000018.3:c.1752-20C= NP_000009.1:n.1752-20C=
NM_001033859.2:c.1686-20C= NP_001029031.1:n.1686-20C=
NM_001270447.1:c.1821-20C= NP_001257376.1:n.1821-20C=
NM_001270448.1:c.1524-20C= NP_001257377.1:n.1524-20C=
XM_006721516.2:c.1753C= XP_006721579.2:p.His585=
XM_011523829.1:c.1651C= XP_011522131.1:p.His551=
XM_011523830.1:c.1650-20C= XP_011522132.1:n.1650-20C=
XR_934021.1:n.1855-20C=
XR_934022.1:n.1761-20C=
XR_934023.1:n.1762C=
XM_006721516.3:c.1753C= XP_006721579.2:p.His585=
XM_011523829.2:c.1651C= XP_011522131.1:p.His551=
XM_011523830.2:c.1650-20C= XP_011522132.1:n.1650-20C=
XM_024450741.1:c.1740-20C= XP_024306509.1:n.1740-20C=
XR_934021.2:n.1807-20C=
XR_934022.2:n.1713-20C=
XR_934023.2:n.1714C=
NM_000018.4:c.1752-20C= MANE Select NP_000009.1:n.1752-20C=
NM_001033859.3:c.1686-20C= NP_001029031.1:n.1686-20C=
NM_001270447.2:c.1821-20C= NP_001257376.1:n.1821-20C=
NM_001270448.2:c.1524-20C= NP_001257377.1:n.1524-20C=