Canonical Allele Identifier: CA2245700941
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222022T= , CM000679.2:g.7222022T= GRCh38
NC_000017.10:g.7125341T= , CM000679.1:g.7125341T= GRCh37
NC_000017.9:g.7066065T= NCBI36
NG_007975.1:g.7189T=
NG_008391.2:g.3029A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.693T= MANE Select ENSP00000349297.5:p.Ser231=
ENST00000322910.9:c.*648T= ENSP00000325395.5:n.*648T=
ENST00000350303.9:c.627T= ENSP00000344152.5:p.Ser209=
ENST00000356839.9:c.693T= ENSP00000349297.5:p.Ser231=
ENST00000543245.6:c.762T= ENSP00000438689.2:p.Ser254=
ENST00000577191.5:n.770T=
ENST00000577857.5:n.509T=
ENST00000579286.5:n.874T=
ENST00000580365.1:n.424T=
ENST00000581378.5:c.411T=
ENST00000582379.1:n.77T=
ENST00000583760.1:n.475T=
NM_000018.3:c.693T= NP_000009.1:p.Ser231=
NM_001033859.2:c.627T= NP_001029031.1:p.Ser209=
NM_001270447.1:c.762T= NP_001257376.1:p.Ser254=
NM_001270448.1:c.465T= NP_001257377.1:p.Ser155=
XM_006721516.2:c.693T= XP_006721579.2:p.Ser231=
XM_011523829.1:c.693T= XP_011522131.1:p.Ser231=
XM_011523830.1:c.693T= XP_011522132.1:p.Ser231=
XR_934021.1:n.800T=
XR_934022.1:n.800T=
XR_934023.1:n.800T=
XM_006721516.3:c.693T= XP_006721579.2:p.Ser231=
XM_011523829.2:c.693T= XP_011522131.1:p.Ser231=
XM_011523830.2:c.693T= XP_011522132.1:p.Ser231=
XM_024450741.1:c.693T= XP_024306509.1:p.Ser231=
XR_934021.2:n.752T=
XR_934022.2:n.752T=
XR_934023.2:n.752T=
NM_000018.4:c.693T= MANE Select NP_000009.1:p.Ser231=
NM_001033859.3:c.627T= NP_001029031.1:p.Ser209=
NM_001270447.2:c.762T= NP_001257376.1:p.Ser254=
NM_001270448.2:c.465T= NP_001257377.1:p.Ser155=