Canonical Allele Identifier: CA2245713809
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224340G= , CM000679.2:g.7224340G= GRCh38
NC_000017.10:g.7127659G= , CM000679.1:g.7127659G= GRCh37
NC_000017.9:g.7068383G= NCBI36
NG_007975.1:g.9507G=
NG_008391.2:g.711C=
NG_033038.1:g.15205C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1552G= MANE Select ENSP00000349297.5:p.Gly518=
ENST00000322910.9:c.*1507G= ENSP00000325395.5:n.*1507G=
ENST00000350303.9:c.1486G= ENSP00000344152.5:p.Gly496=
ENST00000356839.9:c.1552G= ENSP00000349297.5:p.Gly518=
ENST00000542255.6:c.410G=
ENST00000543245.6:c.1621G= ENSP00000438689.2:p.Gly541=
ENST00000578319.5:n.47G=
ENST00000578711.1:n.836G=
ENST00000578809.5:n.124G=
ENST00000579391.1:n.160G=
ENST00000579425.5:n.668G=
ENST00000579546.1:c.291G=
ENST00000579894.5:n.339G=
ENST00000582450.1:n.60G=
ENST00000583074.5:n.173G=
ENST00000583850.5:n.327G=
ENST00000583858.5:c.483G=
ENST00000585203.6:n.743G=
NM_000018.3:c.1552G= NP_000009.1:p.Gly518=
NM_001033859.2:c.1486G= NP_001029031.1:p.Gly496=
NM_001270447.1:c.1621G= NP_001257376.1:p.Gly541=
NM_001270448.1:c.1324G= NP_001257377.1:p.Gly442=
XM_006721516.2:c.1552G= XP_006721579.2:p.Gly518=
XM_011523829.1:c.1454G= XP_011522131.1:p.Arg485=
XM_011523830.1:c.1454G= XP_011522132.1:p.Arg485=
XR_934021.1:n.1659G=
XR_934022.1:n.1561G=
XR_934023.1:n.1561G=
XM_006721516.3:c.1552G= XP_006721579.2:p.Gly518=
XM_011523829.2:c.1454G= XP_011522131.1:p.Arg485=
XM_011523830.2:c.1454G= XP_011522132.1:p.Arg485=
XM_024450741.1:c.1454G= XP_024306509.1:p.Arg485=
XR_934021.2:n.1611G=
XR_934022.2:n.1513G=
XR_934023.2:n.1513G=
NM_000018.4:c.1552G= MANE Select NP_000009.1:p.Gly518=
NM_001033859.3:c.1486G= NP_001029031.1:p.Gly496=
NM_001270447.2:c.1621G= NP_001257376.1:p.Gly541=
NM_001270448.2:c.1324G= NP_001257377.1:p.Gly442=
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