Canonical Allele Identifier: CA2245701469
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222267T= , CM000679.2:g.7222267T= GRCh38
NC_000017.10:g.7125586T= , CM000679.1:g.7125586T= GRCh37
NC_000017.9:g.7066310T= NCBI36
NG_007975.1:g.7434T=
NG_008391.2:g.2784A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.843T= MANE Select ENSP00000349297.5:p.Ala281=
ENST00000322910.9:c.*798T= ENSP00000325395.5:n.*798T=
ENST00000350303.9:c.777T= ENSP00000344152.5:p.Ala259=
ENST00000356839.9:c.843T= ENSP00000349297.5:p.Ala281=
ENST00000543245.6:c.912T= ENSP00000438689.2:p.Ala304=
ENST00000577191.5:n.1015T=
ENST00000581378.5:c.561T=
ENST00000582379.1:n.227T=
NM_000018.3:c.843T= NP_000009.1:p.Ala281=
NM_001033859.2:c.777T= NP_001029031.1:p.Ala259=
NM_001270447.1:c.912T= NP_001257376.1:p.Ala304=
NM_001270448.1:c.615T= NP_001257377.1:p.Ala205=
XM_006721516.2:c.843T= XP_006721579.2:p.Ala281=
XM_011523829.1:c.843T= XP_011522131.1:p.Ala281=
XM_011523830.1:c.843T= XP_011522132.1:p.Ala281=
XR_934021.1:n.950T=
XR_934022.1:n.950T=
XR_934023.1:n.950T=
XM_006721516.3:c.843T= XP_006721579.2:p.Ala281=
XM_011523829.2:c.843T= XP_011522131.1:p.Ala281=
XM_011523830.2:c.843T= XP_011522132.1:p.Ala281=
XM_024450741.1:c.843T= XP_024306509.1:p.Ala281=
XR_934021.2:n.902T=
XR_934022.2:n.902T=
XR_934023.2:n.902T=
NM_000018.4:c.843T= MANE Select NP_000009.1:p.Ala281=
NM_001033859.3:c.777T= NP_001029031.1:p.Ala259=
NM_001270447.2:c.912T= NP_001257376.1:p.Ala304=
NM_001270448.2:c.615T= NP_001257377.1:p.Ala205=