Canonical Allele Identifier: CA2245700907
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222012T= , CM000679.2:g.7222012T= GRCh38
NC_000017.10:g.7125331T= , CM000679.1:g.7125331T= GRCh37
NC_000017.9:g.7066055T= NCBI36
NG_007975.1:g.7179T=
NG_008391.2:g.3039A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.683T= MANE Select ENSP00000349297.5:p.Ile228=
ENST00000322910.9:c.*638T= ENSP00000325395.5:n.*638T=
ENST00000350303.9:c.617T= ENSP00000344152.5:p.Ile206=
ENST00000356839.9:c.683T= ENSP00000349297.5:p.Ile228=
ENST00000543245.6:c.752T= ENSP00000438689.2:p.Ile251=
ENST00000577191.5:n.760T=
ENST00000577857.5:n.499T=
ENST00000579286.5:n.864T=
ENST00000580365.1:n.414T=
ENST00000581378.5:c.401T=
ENST00000582379.1:n.67T=
ENST00000583760.1:n.465T=
NM_000018.3:c.683T= NP_000009.1:p.Ile228=
NM_001033859.2:c.617T= NP_001029031.1:p.Ile206=
NM_001270447.1:c.752T= NP_001257376.1:p.Ile251=
NM_001270448.1:c.455T= NP_001257377.1:p.Ile152=
XM_006721516.2:c.683T= XP_006721579.2:p.Ile228=
XM_011523829.1:c.683T= XP_011522131.1:p.Ile228=
XM_011523830.1:c.683T= XP_011522132.1:p.Ile228=
XR_934021.1:n.790T=
XR_934022.1:n.790T=
XR_934023.1:n.790T=
XM_006721516.3:c.683T= XP_006721579.2:p.Ile228=
XM_011523829.2:c.683T= XP_011522131.1:p.Ile228=
XM_011523830.2:c.683T= XP_011522132.1:p.Ile228=
XM_024450741.1:c.683T= XP_024306509.1:p.Ile228=
XR_934021.2:n.742T=
XR_934022.2:n.742T=
XR_934023.2:n.742T=
NM_000018.4:c.683T= MANE Select NP_000009.1:p.Ile228=
NM_001033859.3:c.617T= NP_001029031.1:p.Ile206=
NM_001270447.2:c.752T= NP_001257376.1:p.Ile251=
NM_001270448.2:c.455T= NP_001257377.1:p.Ile152=