Canonical Allele Identifier: CA2245701270
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222191C= , CM000679.2:g.7222191C= GRCh38
NC_000017.10:g.7125510C= , CM000679.1:g.7125510C= GRCh37
NC_000017.9:g.7066234C= NCBI36
NG_007975.1:g.7358C=
NG_008391.2:g.2860G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.767C= MANE Select ENSP00000349297.5:p.Ala256=
ENST00000322910.9:c.*722C= ENSP00000325395.5:n.*722C=
ENST00000350303.9:c.701C= ENSP00000344152.5:p.Ala234=
ENST00000356839.9:c.767C= ENSP00000349297.5:p.Ala256=
ENST00000543245.6:c.836C= ENSP00000438689.2:p.Ala279=
ENST00000577191.5:n.939C=
ENST00000581378.5:c.485C=
ENST00000582379.1:n.151C=
NM_000018.3:c.767C= NP_000009.1:p.Ala256=
NM_001033859.2:c.701C= NP_001029031.1:p.Ala234=
NM_001270447.1:c.836C= NP_001257376.1:p.Ala279=
NM_001270448.1:c.539C= NP_001257377.1:p.Ala180=
XM_006721516.2:c.767C= XP_006721579.2:p.Ala256=
XM_011523829.1:c.767C= XP_011522131.1:p.Ala256=
XM_011523830.1:c.767C= XP_011522132.1:p.Ala256=
XR_934021.1:n.874C=
XR_934022.1:n.874C=
XR_934023.1:n.874C=
XM_006721516.3:c.767C= XP_006721579.2:p.Ala256=
XM_011523829.2:c.767C= XP_011522131.1:p.Ala256=
XM_011523830.2:c.767C= XP_011522132.1:p.Ala256=
XM_024450741.1:c.767C= XP_024306509.1:p.Ala256=
XR_934021.2:n.826C=
XR_934022.2:n.826C=
XR_934023.2:n.826C=
NM_000018.4:c.767C= MANE Select NP_000009.1:p.Ala256=
NM_001033859.3:c.701C= NP_001029031.1:p.Ala234=
NM_001270447.2:c.836C= NP_001257376.1:p.Ala279=
NM_001270448.2:c.539C= NP_001257377.1:p.Ala180=