Canonical Allele Identifier: CA2245700059
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221555G= , CM000679.2:g.7221555G= GRCh38
NC_000017.10:g.7124874G= , CM000679.1:g.7124874G= GRCh37
NC_000017.9:g.7065598G= NCBI36
NG_007975.1:g.6722G=
NG_008391.2:g.3496C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.495G= MANE Select ENSP00000349297.5:p.Glu165=
ENST00000322910.9:c.*450G= ENSP00000325395.5:n.*450G=
ENST00000350303.9:c.429G= ENSP00000344152.5:p.Glu143=
ENST00000356839.9:c.495G= ENSP00000349297.5:p.Glu165=
ENST00000543245.6:c.564G= ENSP00000438689.2:p.Glu188=
ENST00000577191.5:n.572G=
ENST00000577433.5:n.703G=
ENST00000577857.5:n.311G=
ENST00000579286.5:n.676G=
ENST00000579886.2:c.333G= ENSP00000463246.1:p.Glu111=
ENST00000580365.1:n.226G=
ENST00000581378.5:c.213G=
ENST00000581562.5:n.525-397G=
ENST00000582166.1:n.476G=
ENST00000583312.5:c.495G= ENSP00000467920.1:p.Glu165=
ENST00000583760.1:n.277G=
NM_000018.3:c.495G= NP_000009.1:p.Glu165=
NM_001033859.2:c.429G= NP_001029031.1:p.Glu143=
NM_001270447.1:c.564G= NP_001257376.1:p.Glu188=
NM_001270448.1:c.267G= NP_001257377.1:p.Glu89=
XM_006721516.2:c.495G= XP_006721579.2:p.Glu165=
XM_011523829.1:c.495G= XP_011522131.1:p.Glu165=
XM_011523830.1:c.495G= XP_011522132.1:p.Glu165=
XR_934021.1:n.602G=
XR_934022.1:n.602G=
XR_934023.1:n.602G=
XM_006721516.3:c.495G= XP_006721579.2:p.Glu165=
XM_011523829.2:c.495G= XP_011522131.1:p.Glu165=
XM_011523830.2:c.495G= XP_011522132.1:p.Glu165=
XM_024450741.1:c.495G= XP_024306509.1:p.Glu165=
XR_934021.2:n.554G=
XR_934022.2:n.554G=
XR_934023.2:n.554G=
NM_000018.4:c.495G= MANE Select NP_000009.1:p.Glu165=
NM_001033859.3:c.429G= NP_001029031.1:p.Glu143=
NM_001270447.2:c.564G= NP_001257376.1:p.Glu188=
NM_001270448.2:c.267G= NP_001257377.1:p.Glu89=