Canonical Allele Identifier: CA2245715777
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224864T= , CM000679.2:g.7224864T= GRCh38
NC_000017.10:g.7128183T= , CM000679.1:g.7128183T= GRCh37
NC_000017.9:g.7068907T= NCBI36
NG_007975.1:g.10031T=
NG_008391.2:g.187A=
NG_033038.1:g.14681A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1807T= MANE Select ENSP00000349297.5:p.Cys603=
ENST00000322910.9:c.*1762T= ENSP00000325395.5:n.*1762T=
ENST00000350303.9:c.1741T= ENSP00000344152.5:p.Cys581=
ENST00000356839.9:c.1807T= ENSP00000349297.5:p.Cys603=
ENST00000542255.6:c.686T=
ENST00000543245.6:c.1876T= ENSP00000438689.2:p.Cys626=
ENST00000578033.1:n.232T=
ENST00000578319.5:n.388T=
ENST00000578711.1:n.1360T=
ENST00000578809.5:n.379T=
ENST00000579425.5:n.923T=
ENST00000579546.1:c.542T=
ENST00000583848.5:c.173T= ENSP00000466487.1:n.173T=
ENST00000583850.5:n.578T=
ENST00000583858.5:c.738T=
NM_000018.3:c.1807T= NP_000009.1:p.Cys603=
NM_001033859.2:c.1741T= NP_001029031.1:p.Cys581=
NM_001270447.1:c.1876T= NP_001257376.1:p.Cys626=
NM_001270448.1:c.1579T= NP_001257377.1:p.Cys527=
XM_006721516.2:c.1828T= XP_006721579.2:p.Cys610=
XM_011523829.1:c.1726T= XP_011522131.1:p.Cys576=
XM_011523830.1:c.1705T= XP_011522132.1:p.Cys569=
XR_934021.1:n.1910T=
XR_934022.1:n.1816T=
XR_934023.1:n.1837T=
XM_006721516.3:c.1828T= XP_006721579.2:p.Cys610=
XM_011523829.2:c.1726T= XP_011522131.1:p.Cys576=
XM_011523830.2:c.1705T= XP_011522132.1:p.Cys569=
XM_024450741.1:c.1795T= XP_024306509.1:p.Cys599=
XR_934021.2:n.1862T=
XR_934022.2:n.1768T=
XR_934023.2:n.1789T=
NM_000018.4:c.1807T= MANE Select NP_000009.1:p.Cys603=
NM_001033859.3:c.1741T= NP_001029031.1:p.Cys581=
NM_001270447.2:c.1876T= NP_001257376.1:p.Cys626=
NM_001270448.2:c.1579T= NP_001257377.1:p.Cys527=