Canonical Allele Identifier: CA2245712817
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224062G= , CM000679.2:g.7224062G= GRCh38
NC_000017.10:g.7127381G= , CM000679.1:g.7127381G= GRCh37
NC_000017.9:g.7068105G= NCBI36
NG_007975.1:g.9229G=
NG_008391.2:g.989C=
NG_033038.1:g.15483C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1427G= MANE Select ENSP00000349297.5:p.Gly476=
ENST00000322910.9:c.*1382G= ENSP00000325395.5:n.*1382G=
ENST00000350303.9:c.1361G= ENSP00000344152.5:p.Gly454=
ENST00000356839.9:c.1427G= ENSP00000349297.5:p.Gly476=
ENST00000542255.6:c.285G=
ENST00000543245.6:c.1496G= ENSP00000438689.2:p.Gly499=
ENST00000578711.1:n.558G=
ENST00000579425.5:n.543G=
ENST00000579546.1:c.264G=
ENST00000579894.5:n.138G=
ENST00000583074.5:n.146G=
ENST00000583850.5:n.202G=
ENST00000583858.5:c.456G=
ENST00000585203.6:n.618G=
NM_000018.3:c.1427G= NP_000009.1:p.Gly476=
NM_001033859.2:c.1361G= NP_001029031.1:p.Gly454=
NM_001270447.1:c.1496G= NP_001257376.1:p.Gly499=
NM_001270448.1:c.1199G= NP_001257377.1:p.Gly400=
XM_006721516.2:c.1427G= XP_006721579.2:p.Gly476=
XM_011523829.1:c.1427G= XP_011522131.1:p.Gly476=
XM_011523830.1:c.1427G= XP_011522132.1:p.Gly476=
XR_934021.1:n.1534G=
XR_934022.1:n.1534G=
XR_934023.1:n.1534G=
XM_006721516.3:c.1427G= XP_006721579.2:p.Gly476=
XM_011523829.2:c.1427G= XP_011522131.1:p.Gly476=
XM_011523830.2:c.1427G= XP_011522132.1:p.Gly476=
XM_024450741.1:c.1427G= XP_024306509.1:p.Gly476=
XR_934021.2:n.1486G=
XR_934022.2:n.1486G=
XR_934023.2:n.1486G=
NM_000018.4:c.1427G= MANE Select NP_000009.1:p.Gly476=
NM_001033859.3:c.1361G= NP_001029031.1:p.Gly454=
NM_001270447.2:c.1496G= NP_001257376.1:p.Gly499=
NM_001270448.2:c.1199G= NP_001257377.1:p.Gly400=