Canonical Allele Identifier: CA2245716028
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224962A= , CM000679.2:g.7224962A= GRCh38
NC_000017.10:g.7128281A= , CM000679.1:g.7128281A= GRCh37
NC_000017.9:g.7069005A= NCBI36
NG_007975.1:g.10129A=
NG_008391.2:g.89T=
NG_033038.1:g.14583T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1833A= MANE Select ENSP00000349297.5:p.Ala611=
ENST00000322910.9:c.*1788A= ENSP00000325395.5:n.*1788A=
ENST00000350303.9:c.1767A= ENSP00000344152.5:p.Ala589=
ENST00000356839.9:c.1833A= ENSP00000349297.5:p.Ala611=
ENST00000542255.6:c.712A=
ENST00000543245.6:c.1902A= ENSP00000438689.2:p.Ala634=
ENST00000578033.1:n.258A=
ENST00000578319.5:n.414A=
ENST00000578711.1:n.1458A=
ENST00000578809.5:n.405A=
ENST00000579425.5:n.949A=
ENST00000579546.1:c.568A=
ENST00000583848.5:c.199A= ENSP00000466487.1:n.199A=
ENST00000583850.5:n.604A=
ENST00000583858.5:c.764A=
NM_000018.3:c.1833A= NP_000009.1:p.Ala611=
NM_001033859.2:c.1767A= NP_001029031.1:p.Ala589=
NM_001270447.1:c.1902A= NP_001257376.1:p.Ala634=
NM_001270448.1:c.1605A= NP_001257377.1:p.Ala535=
XM_006721516.2:c.1854A= XP_006721579.2:p.Ala618=
XM_011523829.1:c.1752A= XP_011522131.1:p.Ala584=
XM_011523830.1:c.1731A= XP_011522132.1:p.Ala577=
XR_934021.1:n.1936A=
XR_934022.1:n.1842A=
XR_934023.1:n.1863A=
XM_006721516.3:c.1854A= XP_006721579.2:p.Ala618=
XM_011523829.2:c.1752A= XP_011522131.1:p.Ala584=
XM_011523830.2:c.1731A= XP_011522132.1:p.Ala577=
XM_024450741.1:c.1821A= XP_024306509.1:p.Ala607=
XR_934021.2:n.1888A=
XR_934022.2:n.1794A=
XR_934023.2:n.1815A=
NM_000018.4:c.1833A= MANE Select NP_000009.1:p.Ala611=
NM_001033859.3:c.1767A= NP_001029031.1:p.Ala589=
NM_001270447.2:c.1902A= NP_001257376.1:p.Ala634=
NM_001270448.2:c.1605A= NP_001257377.1:p.Ala535=