Canonical Allele Identifier: CA2245700950
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222027T= , CM000679.2:g.7222027T= GRCh38
NC_000017.10:g.7125346T= , CM000679.1:g.7125346T= GRCh37
NC_000017.9:g.7066070T= NCBI36
NG_007975.1:g.7194T=
NG_008391.2:g.3024A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.698T= MANE Select ENSP00000349297.5:p.Val233=
ENST00000322910.9:c.*653T= ENSP00000325395.5:n.*653T=
ENST00000350303.9:c.632T= ENSP00000344152.5:p.Val211=
ENST00000356839.9:c.698T= ENSP00000349297.5:p.Val233=
ENST00000543245.6:c.767T= ENSP00000438689.2:p.Val256=
ENST00000577191.5:n.775T=
ENST00000577857.5:n.514T=
ENST00000579286.5:n.879T=
ENST00000580365.1:n.429T=
ENST00000581378.5:c.416T=
ENST00000582379.1:n.82T=
ENST00000583760.1:n.480T=
NM_000018.3:c.698T= NP_000009.1:p.Val233=
NM_001033859.2:c.632T= NP_001029031.1:p.Val211=
NM_001270447.1:c.767T= NP_001257376.1:p.Val256=
NM_001270448.1:c.470T= NP_001257377.1:p.Val157=
XM_006721516.2:c.698T= XP_006721579.2:p.Val233=
XM_011523829.1:c.698T= XP_011522131.1:p.Val233=
XM_011523830.1:c.698T= XP_011522132.1:p.Val233=
XR_934021.1:n.805T=
XR_934022.1:n.805T=
XR_934023.1:n.805T=
XM_006721516.3:c.698T= XP_006721579.2:p.Val233=
XM_011523829.2:c.698T= XP_011522131.1:p.Val233=
XM_011523830.2:c.698T= XP_011522132.1:p.Val233=
XM_024450741.1:c.698T= XP_024306509.1:p.Val233=
XR_934021.2:n.757T=
XR_934022.2:n.757T=
XR_934023.2:n.757T=
NM_000018.4:c.698T= MANE Select NP_000009.1:p.Val233=
NM_001033859.3:c.632T= NP_001029031.1:p.Val211=
NM_001270447.2:c.767T= NP_001257376.1:p.Val256=
NM_001270448.2:c.470T= NP_001257377.1:p.Val157=