Canonical Allele Identifier: CA2245716299
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7225023C= , CM000679.2:g.7225023C= GRCh38
NC_000017.10:g.7128342C= , CM000679.1:g.7128342C= GRCh37
NC_000017.9:g.7069066C= NCBI36
NG_007975.1:g.10190C=
NG_008391.2:g.28G=
NG_033038.1:g.14522G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1894C= MANE Select ENSP00000349297.5:p.Arg632=
ENST00000322910.9:c.*1849C= ENSP00000325395.5:n.*1849C=
ENST00000350303.9:c.1828C= ENSP00000344152.5:p.Arg610=
ENST00000356839.9:c.1894C= ENSP00000349297.5:p.Arg632=
ENST00000542255.6:c.773C=
ENST00000543245.6:c.1963C= ENSP00000438689.2:p.Arg655=
ENST00000578033.1:n.319C=
ENST00000578319.5:n.475C=
ENST00000578711.1:n.1519C=
ENST00000578809.5:n.466C=
ENST00000579425.5:n.1010C=
ENST00000583848.5:c.260C= ENSP00000466487.1:n.260C=
ENST00000583850.5:n.665C=
ENST00000583858.5:c.825C=
NM_000018.3:c.1894C= NP_000009.1:p.Arg632=
NM_001033859.2:c.1828C= NP_001029031.1:p.Arg610=
NM_001270447.1:c.1963C= NP_001257376.1:p.Arg655=
NM_001270448.1:c.1666C= NP_001257377.1:p.Arg556=
XM_006721516.2:c.1915C= XP_006721579.2:p.Arg639=
XM_011523829.1:c.1813C= XP_011522131.1:p.Arg605=
XM_011523830.1:c.1792C= XP_011522132.1:p.Arg598=
XR_934021.1:n.1997C=
XR_934022.1:n.1903C=
XR_934023.1:n.1924C=
XM_006721516.3:c.1915C= XP_006721579.2:p.Arg639=
XM_011523829.2:c.1813C= XP_011522131.1:p.Arg605=
XM_011523830.2:c.1792C= XP_011522132.1:p.Arg598=
XM_024450741.1:c.1882C= XP_024306509.1:p.Arg628=
XR_934021.2:n.1949C=
XR_934022.2:n.1855C=
XR_934023.2:n.1876C=
NM_000018.4:c.1894C= MANE Select NP_000009.1:p.Arg632=
NM_001033859.3:c.1828C= NP_001029031.1:p.Arg610=
NM_001270447.2:c.1963C= NP_001257376.1:p.Arg655=
NM_001270448.2:c.1666C= NP_001257377.1:p.Arg556=