Canonical Allele Identifier: CA2245715144
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224675G= , CM000679.2:g.7224675G= GRCh38
NC_000017.10:g.7127994G= , CM000679.1:g.7127994G= GRCh37
NC_000017.9:g.7068718G= NCBI36
NG_007975.1:g.9842G=
NG_008391.2:g.376C=
NG_033038.1:g.14870C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1712G= MANE Select ENSP00000349297.5:p.Gly571=
ENST00000322910.9:c.*1667G= ENSP00000325395.5:n.*1667G=
ENST00000350303.9:c.1646G= ENSP00000344152.5:p.Gly549=
ENST00000356839.9:c.1712G= ENSP00000349297.5:p.Gly571=
ENST00000542255.6:c.537-40G=
ENST00000543245.6:c.1781G= ENSP00000438689.2:p.Gly594=
ENST00000578033.1:n.43G=
ENST00000578319.5:n.293G=
ENST00000578711.1:n.1171G=
ENST00000578809.5:n.284G=
ENST00000579425.5:n.828G=
ENST00000579546.1:c.447G=
ENST00000583074.5:n.300-40G=
ENST00000583848.5:c.78G= ENSP00000466487.1:p.Arg26=
ENST00000583850.5:n.483G=
ENST00000583858.5:c.643G=
ENST00000585203.6:n.903G=
NM_000018.3:c.1712G= NP_000009.1:p.Gly571=
NM_001033859.2:c.1646G= NP_001029031.1:p.Gly549=
NM_001270447.1:c.1781G= NP_001257376.1:p.Gly594=
NM_001270448.1:c.1484G= NP_001257377.1:p.Gly495=
XM_006721516.2:c.1679-40G= XP_006721579.2:n.1679-40G=
XM_011523829.1:c.1577-40G= XP_011522131.1:n.1577-40G=
XM_011523830.1:c.1610G= XP_011522132.1:p.Gly537=
XR_934021.1:n.1815G=
XR_934022.1:n.1721G=
XR_934023.1:n.1688-40G=
XM_006721516.3:c.1679-40G= XP_006721579.2:n.1679-40G=
XM_011523829.2:c.1577-40G= XP_011522131.1:n.1577-40G=
XM_011523830.2:c.1610G= XP_011522132.1:p.Gly537=
XM_024450741.1:c.1700G= XP_024306509.1:p.Gly567=
XR_934021.2:n.1767G=
XR_934022.2:n.1673G=
XR_934023.2:n.1640-40G=
NM_000018.4:c.1712G= MANE Select NP_000009.1:p.Gly571=
NM_001033859.3:c.1646G= NP_001029031.1:p.Gly549=
NM_001270447.2:c.1781G= NP_001257376.1:p.Gly594=
NM_001270448.2:c.1484G= NP_001257377.1:p.Gly495=