Canonical Allele Identifier: CA2245716699
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7225124T= , CM000679.2:g.7225124T= GRCh38
NC_000017.10:g.7128443T= , CM000679.1:g.7128443T= GRCh37
NC_000017.9:g.7069167T= NCBI36
NG_007975.1:g.10291T=
NG_033038.1:g.14421A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.*27T= MANE Select ENSP00000349297.5:n.*27T=
ENST00000322910.9:c.*1950T= ENSP00000325395.5:n.*1950T=
ENST00000350303.9:c.*27T= ENSP00000344152.5:n.*27T=
ENST00000356839.9:c.*27T= ENSP00000349297.5:n.*27T=
ENST00000542255.6:c.874T=
ENST00000543245.6:c.*27T= ENSP00000438689.2:n.*27T=
ENST00000578033.1:n.420T=
ENST00000578319.5:n.576T=
ENST00000578711.1:n.1620T=
ENST00000578809.5:n.567T=
ENST00000579425.5:n.1111T=
ENST00000583848.5:c.361T= ENSP00000466487.1:n.361T=
ENST00000583850.5:n.766T=
ENST00000583858.5:c.926T=
NM_000018.3:c.*27T= NP_000009.1:n.*27T=
NM_001033859.2:c.*27T= NP_001029031.1:n.*27T=
NM_001270447.1:c.*27T= NP_001257376.1:n.*27T=
NM_001270448.1:c.*27T= NP_001257377.1:n.*27T=
XM_006721516.2:c.*27T= XP_006721579.2:n.*27T=
XM_011523829.1:c.*27T= XP_011522131.1:n.*27T=
XM_011523830.1:c.*27T= XP_011522132.1:n.*27T=
XR_934021.1:n.2098T=
XR_934022.1:n.2004T=
XR_934023.1:n.2025T=
XM_006721516.3:c.*27T= XP_006721579.2:n.*27T=
XM_011523829.2:c.*27T= XP_011522131.1:n.*27T=
XM_011523830.2:c.*27T= XP_011522132.1:n.*27T=
XM_024450741.1:c.*27T= XP_024306509.1:n.*27T=
XR_934021.2:n.2050T=
XR_934022.2:n.1956T=
XR_934023.2:n.1977T=
NM_000018.4:c.*27T= MANE Select NP_000009.1:n.*27T=
NM_001033859.3:c.*27T= NP_001029031.1:n.*27T=
NM_001270447.2:c.*27T= NP_001257376.1:n.*27T=
NM_001270448.2:c.*27T= NP_001257377.1:n.*27T=