Canonical Allele Identifier: CA2245716113
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224979G= , CM000679.2:g.7224979G= GRCh38
NC_000017.10:g.7128298G= , CM000679.1:g.7128298G= GRCh37
NC_000017.9:g.7069022G= NCBI36
NG_007975.1:g.10146G=
NG_008391.2:g.72C=
NG_033038.1:g.14566C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1850G= MANE Select ENSP00000349297.5:p.Gly617=
ENST00000322910.9:c.*1805G= ENSP00000325395.5:n.*1805G=
ENST00000350303.9:c.1784G= ENSP00000344152.5:p.Gly595=
ENST00000356839.9:c.1850G= ENSP00000349297.5:p.Gly617=
ENST00000542255.6:c.729G=
ENST00000543245.6:c.1919G= ENSP00000438689.2:p.Gly640=
ENST00000578033.1:n.275G=
ENST00000578319.5:n.431G=
ENST00000578711.1:n.1475G=
ENST00000578809.5:n.422G=
ENST00000579425.5:n.966G=
ENST00000583848.5:c.216G= ENSP00000466487.1:n.216G=
ENST00000583850.5:n.621G=
ENST00000583858.5:c.781G=
NM_000018.3:c.1850G= NP_000009.1:p.Gly617=
NM_001033859.2:c.1784G= NP_001029031.1:p.Gly595=
NM_001270447.1:c.1919G= NP_001257376.1:p.Gly640=
NM_001270448.1:c.1622G= NP_001257377.1:p.Gly541=
XM_006721516.2:c.1871G= XP_006721579.2:p.Gly624=
XM_011523829.1:c.1769G= XP_011522131.1:p.Gly590=
XM_011523830.1:c.1748G= XP_011522132.1:p.Gly583=
XR_934021.1:n.1953G=
XR_934022.1:n.1859G=
XR_934023.1:n.1880G=
XM_006721516.3:c.1871G= XP_006721579.2:p.Gly624=
XM_011523829.2:c.1769G= XP_011522131.1:p.Gly590=
XM_011523830.2:c.1748G= XP_011522132.1:p.Gly583=
XM_024450741.1:c.1838G= XP_024306509.1:p.Gly613=
XR_934021.2:n.1905G=
XR_934022.2:n.1811G=
XR_934023.2:n.1832G=
NM_000018.4:c.1850G= MANE Select NP_000009.1:p.Gly617=
NM_001033859.3:c.1784G= NP_001029031.1:p.Gly595=
NM_001270447.2:c.1919G= NP_001257376.1:p.Gly640=
NM_001270448.2:c.1622G= NP_001257377.1:p.Gly541=