Canonical Allele Identifier: CA2245701374
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222227C= , CM000679.2:g.7222227C= GRCh38
NC_000017.10:g.7125546C= , CM000679.1:g.7125546C= GRCh37
NC_000017.9:g.7066270C= NCBI36
NG_007975.1:g.7394C=
NG_008391.2:g.2824G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.803C= MANE Select ENSP00000349297.5:p.Thr268=
ENST00000322910.9:c.*758C= ENSP00000325395.5:n.*758C=
ENST00000350303.9:c.737C= ENSP00000344152.5:p.Thr246=
ENST00000356839.9:c.803C= ENSP00000349297.5:p.Thr268=
ENST00000543245.6:c.872C= ENSP00000438689.2:p.Thr291=
ENST00000577191.5:n.975C=
ENST00000581378.5:c.521C=
ENST00000582379.1:n.187C=
NM_000018.3:c.803C= NP_000009.1:p.Thr268=
NM_001033859.2:c.737C= NP_001029031.1:p.Thr246=
NM_001270447.1:c.872C= NP_001257376.1:p.Thr291=
NM_001270448.1:c.575C= NP_001257377.1:p.Thr192=
XM_006721516.2:c.803C= XP_006721579.2:p.Thr268=
XM_011523829.1:c.803C= XP_011522131.1:p.Thr268=
XM_011523830.1:c.803C= XP_011522132.1:p.Thr268=
XR_934021.1:n.910C=
XR_934022.1:n.910C=
XR_934023.1:n.910C=
XM_006721516.3:c.803C= XP_006721579.2:p.Thr268=
XM_011523829.2:c.803C= XP_011522131.1:p.Thr268=
XM_011523830.2:c.803C= XP_011522132.1:p.Thr268=
XM_024450741.1:c.803C= XP_024306509.1:p.Thr268=
XR_934021.2:n.862C=
XR_934022.2:n.862C=
XR_934023.2:n.862C=
NM_000018.4:c.803C= MANE Select NP_000009.1:p.Thr268=
NM_001033859.3:c.737C= NP_001029031.1:p.Thr246=
NM_001270447.2:c.872C= NP_001257376.1:p.Thr291=
NM_001270448.2:c.575C= NP_001257377.1:p.Thr192=