Canonical Allele Identifier: CA2245701434
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222245C= , CM000679.2:g.7222245C= GRCh38
NC_000017.10:g.7125564C= , CM000679.1:g.7125564C= GRCh37
NC_000017.9:g.7066288C= NCBI36
NG_007975.1:g.7412C=
NG_008391.2:g.2806G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.821C= MANE Select ENSP00000349297.5:p.Ala274=
ENST00000322910.9:c.*776C= ENSP00000325395.5:n.*776C=
ENST00000350303.9:c.755C= ENSP00000344152.5:p.Ala252=
ENST00000356839.9:c.821C= ENSP00000349297.5:p.Ala274=
ENST00000543245.6:c.890C= ENSP00000438689.2:p.Ala297=
ENST00000577191.5:n.993C=
ENST00000581378.5:c.539C=
ENST00000582379.1:n.205C=
NM_000018.3:c.821C= NP_000009.1:p.Ala274=
NM_001033859.2:c.755C= NP_001029031.1:p.Ala252=
NM_001270447.1:c.890C= NP_001257376.1:p.Ala297=
NM_001270448.1:c.593C= NP_001257377.1:p.Ala198=
XM_006721516.2:c.821C= XP_006721579.2:p.Ala274=
XM_011523829.1:c.821C= XP_011522131.1:p.Ala274=
XM_011523830.1:c.821C= XP_011522132.1:p.Ala274=
XR_934021.1:n.928C=
XR_934022.1:n.928C=
XR_934023.1:n.928C=
XM_006721516.3:c.821C= XP_006721579.2:p.Ala274=
XM_011523829.2:c.821C= XP_011522131.1:p.Ala274=
XM_011523830.2:c.821C= XP_011522132.1:p.Ala274=
XM_024450741.1:c.821C= XP_024306509.1:p.Ala274=
XR_934021.2:n.880C=
XR_934022.2:n.880C=
XR_934023.2:n.880C=
NM_000018.4:c.821C= MANE Select NP_000009.1:p.Ala274=
NM_001033859.3:c.755C= NP_001029031.1:p.Ala252=
NM_001270447.2:c.890C= NP_001257376.1:p.Ala297=
NM_001270448.2:c.593C= NP_001257377.1:p.Ala198=