Canonical Allele Identifier: CA2245716266
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7225013A= , CM000679.2:g.7225013A= GRCh38
NC_000017.10:g.7128332A= , CM000679.1:g.7128332A= GRCh37
NC_000017.9:g.7069056A= NCBI36
NG_007975.1:g.10180A=
NG_008391.2:g.38T=
NG_033038.1:g.14532T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1884A= MANE Select ENSP00000349297.5:p.Gln628=
ENST00000322910.9:c.*1839A= ENSP00000325395.5:n.*1839A=
ENST00000350303.9:c.1818A= ENSP00000344152.5:p.Gln606=
ENST00000356839.9:c.1884A= ENSP00000349297.5:p.Gln628=
ENST00000542255.6:c.763A=
ENST00000543245.6:c.1953A= ENSP00000438689.2:p.Gln651=
ENST00000578033.1:n.309A=
ENST00000578319.5:n.465A=
ENST00000578711.1:n.1509A=
ENST00000578809.5:n.456A=
ENST00000579425.5:n.1000A=
ENST00000583848.5:c.250A= ENSP00000466487.1:n.250A=
ENST00000583850.5:n.655A=
ENST00000583858.5:c.815A=
NM_000018.3:c.1884A= NP_000009.1:p.Gln628=
NM_001033859.2:c.1818A= NP_001029031.1:p.Gln606=
NM_001270447.1:c.1953A= NP_001257376.1:p.Gln651=
NM_001270448.1:c.1656A= NP_001257377.1:p.Gln552=
XM_006721516.2:c.1905A= XP_006721579.2:p.Gln635=
XM_011523829.1:c.1803A= XP_011522131.1:p.Gln601=
XM_011523830.1:c.1782A= XP_011522132.1:p.Gln594=
XR_934021.1:n.1987A=
XR_934022.1:n.1893A=
XR_934023.1:n.1914A=
XM_006721516.3:c.1905A= XP_006721579.2:p.Gln635=
XM_011523829.2:c.1803A= XP_011522131.1:p.Gln601=
XM_011523830.2:c.1782A= XP_011522132.1:p.Gln594=
XM_024450741.1:c.1872A= XP_024306509.1:p.Gln624=
XR_934021.2:n.1939A=
XR_934022.2:n.1845A=
XR_934023.2:n.1866A=
NM_000018.4:c.1884A= MANE Select NP_000009.1:p.Gln628=
NM_001033859.3:c.1818A= NP_001029031.1:p.Gln606=
NM_001270447.2:c.1953A= NP_001257376.1:p.Gln651=
NM_001270448.2:c.1656A= NP_001257377.1:p.Gln552=