Canonical Allele Identifier: CA2245701069
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222075G= , CM000679.2:g.7222075G= GRCh38
NC_000017.10:g.7125394G= , CM000679.1:g.7125394G= GRCh37
NC_000017.9:g.7066118G= NCBI36
NG_007975.1:g.7242G=
NG_008391.2:g.2976C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.746G= MANE Select ENSP00000349297.5:p.Trp249=
ENST00000322910.9:c.*701G= ENSP00000325395.5:n.*701G=
ENST00000350303.9:c.680G= ENSP00000344152.5:p.Trp227=
ENST00000356839.9:c.746G= ENSP00000349297.5:p.Trp249=
ENST00000543245.6:c.815G= ENSP00000438689.2:p.Trp272=
ENST00000577191.5:n.823G=
ENST00000577857.5:n.562G=
ENST00000579286.5:n.927G=
ENST00000580365.1:n.477G=
ENST00000581378.5:c.464G=
ENST00000582379.1:n.130G=
ENST00000583760.1:n.528G=
NM_000018.3:c.746G= NP_000009.1:p.Trp249=
NM_001033859.2:c.680G= NP_001029031.1:p.Trp227=
NM_001270447.1:c.815G= NP_001257376.1:p.Trp272=
NM_001270448.1:c.518G= NP_001257377.1:p.Trp173=
XM_006721516.2:c.746G= XP_006721579.2:p.Trp249=
XM_011523829.1:c.746G= XP_011522131.1:p.Trp249=
XM_011523830.1:c.746G= XP_011522132.1:p.Trp249=
XR_934021.1:n.853G=
XR_934022.1:n.853G=
XR_934023.1:n.853G=
XM_006721516.3:c.746G= XP_006721579.2:p.Trp249=
XM_011523829.2:c.746G= XP_011522131.1:p.Trp249=
XM_011523830.2:c.746G= XP_011522132.1:p.Trp249=
XM_024450741.1:c.746G= XP_024306509.1:p.Trp249=
XR_934021.2:n.805G=
XR_934022.2:n.805G=
XR_934023.2:n.805G=
NM_000018.4:c.746G= MANE Select NP_000009.1:p.Trp249=
NM_001033859.3:c.680G= NP_001029031.1:p.Trp227=
NM_001270447.2:c.815G= NP_001257376.1:p.Trp272=
NM_001270448.2:c.518G= NP_001257377.1:p.Trp173=