Canonical Allele Identifier: CA2245701296
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222198C= , CM000679.2:g.7222198C= GRCh38
NC_000017.10:g.7125517C= , CM000679.1:g.7125517C= GRCh37
NC_000017.9:g.7066241C= NCBI36
NG_007975.1:g.7365C=
NG_008391.2:g.2853G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.774C= MANE Select ENSP00000349297.5:p.Ile258=
ENST00000322910.9:c.*729C= ENSP00000325395.5:n.*729C=
ENST00000350303.9:c.708C= ENSP00000344152.5:p.Ile236=
ENST00000356839.9:c.774C= ENSP00000349297.5:p.Ile258=
ENST00000543245.6:c.843C= ENSP00000438689.2:p.Ile281=
ENST00000577191.5:n.946C=
ENST00000581378.5:c.492C=
ENST00000582379.1:n.158C=
NM_000018.3:c.774C= NP_000009.1:p.Ile258=
NM_001033859.2:c.708C= NP_001029031.1:p.Ile236=
NM_001270447.1:c.843C= NP_001257376.1:p.Ile281=
NM_001270448.1:c.546C= NP_001257377.1:p.Ile182=
XM_006721516.2:c.774C= XP_006721579.2:p.Ile258=
XM_011523829.1:c.774C= XP_011522131.1:p.Ile258=
XM_011523830.1:c.774C= XP_011522132.1:p.Ile258=
XR_934021.1:n.881C=
XR_934022.1:n.881C=
XR_934023.1:n.881C=
XM_006721516.3:c.774C= XP_006721579.2:p.Ile258=
XM_011523829.2:c.774C= XP_011522131.1:p.Ile258=
XM_011523830.2:c.774C= XP_011522132.1:p.Ile258=
XM_024450741.1:c.774C= XP_024306509.1:p.Ile258=
XR_934021.2:n.833C=
XR_934022.2:n.833C=
XR_934023.2:n.833C=
NM_000018.4:c.774C= MANE Select NP_000009.1:p.Ile258=
NM_001033859.3:c.708C= NP_001029031.1:p.Ile236=
NM_001270447.2:c.843C= NP_001257376.1:p.Ile281=
NM_001270448.2:c.546C= NP_001257377.1:p.Ile182=