Canonical Allele Identifier: CA2245713871
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224355G= , CM000679.2:g.7224355G= GRCh38
NC_000017.10:g.7127674G= , CM000679.1:g.7127674G= GRCh37
NC_000017.9:g.7068398G= NCBI36
NG_007975.1:g.9522G=
NG_008391.2:g.696C=
NG_033038.1:g.15190C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1567G= MANE Select ENSP00000349297.5:p.Gly523=
ENST00000322910.9:c.*1522G= ENSP00000325395.5:n.*1522G=
ENST00000350303.9:c.1501G= ENSP00000344152.5:p.Gly501=
ENST00000356839.9:c.1567G= ENSP00000349297.5:p.Gly523=
ENST00000542255.6:c.425G=
ENST00000543245.6:c.1636G= ENSP00000438689.2:p.Gly546=
ENST00000578319.5:n.62G=
ENST00000578711.1:n.851G=
ENST00000578809.5:n.139G=
ENST00000579391.1:n.175G=
ENST00000579425.5:n.683G=
ENST00000579546.1:c.306G=
ENST00000579894.5:n.354G=
ENST00000582450.1:n.75G=
ENST00000583074.5:n.188G=
ENST00000583850.5:n.342G=
ENST00000583858.5:c.498G=
ENST00000585203.6:n.758G=
NM_000018.3:c.1567G= NP_000009.1:p.Gly523=
NM_001033859.2:c.1501G= NP_001029031.1:p.Gly501=
NM_001270447.1:c.1636G= NP_001257376.1:p.Gly546=
NM_001270448.1:c.1339G= NP_001257377.1:p.Gly447=
XM_006721516.2:c.1567G= XP_006721579.2:p.Gly523=
XM_011523829.1:c.1469G= XP_011522131.1:p.Arg490=
XM_011523830.1:c.1469G= XP_011522132.1:p.Arg490=
XR_934021.1:n.1674G=
XR_934022.1:n.1576G=
XR_934023.1:n.1576G=
XM_006721516.3:c.1567G= XP_006721579.2:p.Gly523=
XM_011523829.2:c.1469G= XP_011522131.1:p.Arg490=
XM_011523830.2:c.1469G= XP_011522132.1:p.Arg490=
XM_024450741.1:c.1469G= XP_024306509.1:p.Arg490=
XR_934021.2:n.1626G=
XR_934022.2:n.1528G=
XR_934023.2:n.1528G=
NM_000018.4:c.1567G= MANE Select NP_000009.1:p.Gly523=
NM_001033859.3:c.1501G= NP_001029031.1:p.Gly501=
NM_001270447.2:c.1636G= NP_001257376.1:p.Gly546=
NM_001270448.2:c.1339G= NP_001257377.1:p.Gly447=