Canonical Allele Identifier: CA2245712523
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223992C= , CM000679.2:g.7223992C= GRCh38
NC_000017.10:g.7127311C= , CM000679.1:g.7127311C= GRCh37
NC_000017.9:g.7068035C= NCBI36
NG_007975.1:g.9159C=
NG_008391.2:g.1059G=
NG_033038.1:g.15553G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1357C= MANE Select ENSP00000349297.5:p.Arg453=
ENST00000322910.9:c.*1312C= ENSP00000325395.5:n.*1312C=
ENST00000350303.9:c.1291C= ENSP00000344152.5:p.Arg431=
ENST00000356839.9:c.1357C= ENSP00000349297.5:p.Arg453=
ENST00000542255.6:c.215C=
ENST00000543245.6:c.1426C= ENSP00000438689.2:p.Arg476=
ENST00000578711.1:n.488C=
ENST00000579425.5:n.473C=
ENST00000579546.1:c.194C=
ENST00000579894.5:n.68C=
ENST00000583074.5:n.76C=
ENST00000583850.5:n.132C=
ENST00000583858.5:c.386C=
ENST00000585203.6:n.548C=
NM_000018.3:c.1357C= NP_000009.1:p.Arg453=
NM_001033859.2:c.1291C= NP_001029031.1:p.Arg431=
NM_001270447.1:c.1426C= NP_001257376.1:p.Arg476=
NM_001270448.1:c.1129C= NP_001257377.1:p.Arg377=
XM_006721516.2:c.1357C= XP_006721579.2:p.Arg453=
XM_011523829.1:c.1357C= XP_011522131.1:p.Arg453=
XM_011523830.1:c.1357C= XP_011522132.1:p.Arg453=
XR_934021.1:n.1464C=
XR_934022.1:n.1464C=
XR_934023.1:n.1464C=
XM_006721516.3:c.1357C= XP_006721579.2:p.Arg453=
XM_011523829.2:c.1357C= XP_011522131.1:p.Arg453=
XM_011523830.2:c.1357C= XP_011522132.1:p.Arg453=
XM_024450741.1:c.1357C= XP_024306509.1:p.Arg453=
XR_934021.2:n.1416C=
XR_934022.2:n.1416C=
XR_934023.2:n.1416C=
NM_000018.4:c.1357C= MANE Select NP_000009.1:p.Arg453=
NM_001033859.3:c.1291C= NP_001029031.1:p.Arg431=
NM_001270447.2:c.1426C= NP_001257376.1:p.Arg476=
NM_001270448.2:c.1129C= NP_001257377.1:p.Arg377=