Canonical Allele Identifier: CA2245701060
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222068A= , CM000679.2:g.7222068A= GRCh38
NC_000017.10:g.7125387A= , CM000679.1:g.7125387A= GRCh37
NC_000017.9:g.7066111A= NCBI36
NG_007975.1:g.7235A=
NG_008391.2:g.2983T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.739A= MANE Select ENSP00000349297.5:p.Lys247=
ENST00000322910.9:c.*694A= ENSP00000325395.5:n.*694A=
ENST00000350303.9:c.673A= ENSP00000344152.5:p.Lys225=
ENST00000356839.9:c.739A= ENSP00000349297.5:p.Lys247=
ENST00000543245.6:c.808A= ENSP00000438689.2:p.Lys270=
ENST00000577191.5:n.816A=
ENST00000577857.5:n.555A=
ENST00000579286.5:n.920A=
ENST00000580365.1:n.470A=
ENST00000581378.5:c.457A=
ENST00000582379.1:n.123A=
ENST00000583760.1:n.521A=
NM_000018.3:c.739A= NP_000009.1:p.Lys247=
NM_001033859.2:c.673A= NP_001029031.1:p.Lys225=
NM_001270447.1:c.808A= NP_001257376.1:p.Lys270=
NM_001270448.1:c.511A= NP_001257377.1:p.Lys171=
XM_006721516.2:c.739A= XP_006721579.2:p.Lys247=
XM_011523829.1:c.739A= XP_011522131.1:p.Lys247=
XM_011523830.1:c.739A= XP_011522132.1:p.Lys247=
XR_934021.1:n.846A=
XR_934022.1:n.846A=
XR_934023.1:n.846A=
XM_006721516.3:c.739A= XP_006721579.2:p.Lys247=
XM_011523829.2:c.739A= XP_011522131.1:p.Lys247=
XM_011523830.2:c.739A= XP_011522132.1:p.Lys247=
XM_024450741.1:c.739A= XP_024306509.1:p.Lys247=
XR_934021.2:n.798A=
XR_934022.2:n.798A=
XR_934023.2:n.798A=
NM_000018.4:c.739A= MANE Select NP_000009.1:p.Lys247=
NM_001033859.3:c.673A= NP_001029031.1:p.Lys225=
NM_001270447.2:c.808A= NP_001257376.1:p.Lys270=
NM_001270448.2:c.511A= NP_001257377.1:p.Lys171=