Canonical Allele Identifier: CA2245713784
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224328G= , CM000679.2:g.7224328G= GRCh38
NC_000017.10:g.7127647G= , CM000679.1:g.7127647G= GRCh37
NC_000017.9:g.7068371G= NCBI36
NG_007975.1:g.9495G=
NG_008391.2:g.723C=
NG_033038.1:g.15217C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1540G= MANE Select ENSP00000349297.5:p.Gly514=
ENST00000322910.9:c.*1495G= ENSP00000325395.5:n.*1495G=
ENST00000350303.9:c.1474G= ENSP00000344152.5:p.Gly492=
ENST00000356839.9:c.1540G= ENSP00000349297.5:p.Gly514=
ENST00000542255.6:c.398G=
ENST00000543245.6:c.1609G= ENSP00000438689.2:p.Gly537=
ENST00000578319.5:n.35G=
ENST00000578711.1:n.824G=
ENST00000578809.5:n.112G=
ENST00000579391.1:n.148G=
ENST00000579425.5:n.656G=
ENST00000579546.1:c.279G=
ENST00000579894.5:n.327G=
ENST00000582450.1:n.48G=
ENST00000583074.5:n.161G=
ENST00000583850.5:n.315G=
ENST00000583858.5:c.471G=
ENST00000585203.6:n.731G=
NM_000018.3:c.1540G= NP_000009.1:p.Gly514=
NM_001033859.2:c.1474G= NP_001029031.1:p.Gly492=
NM_001270447.1:c.1609G= NP_001257376.1:p.Gly537=
NM_001270448.1:c.1312G= NP_001257377.1:p.Gly438=
XM_006721516.2:c.1540G= XP_006721579.2:p.Gly514=
XM_011523829.1:c.1442G= XP_011522131.1:p.Arg481=
XM_011523830.1:c.1442G= XP_011522132.1:p.Arg481=
XR_934021.1:n.1647G=
XR_934022.1:n.1549G=
XR_934023.1:n.1549G=
XM_006721516.3:c.1540G= XP_006721579.2:p.Gly514=
XM_011523829.2:c.1442G= XP_011522131.1:p.Arg481=
XM_011523830.2:c.1442G= XP_011522132.1:p.Arg481=
XM_024450741.1:c.1442G= XP_024306509.1:p.Arg481=
XR_934021.2:n.1599G=
XR_934022.2:n.1501G=
XR_934023.2:n.1501G=
NM_000018.4:c.1540G= MANE Select NP_000009.1:p.Gly514=
NM_001033859.3:c.1474G= NP_001029031.1:p.Gly492=
NM_001270447.2:c.1609G= NP_001257376.1:p.Gly537=
NM_001270448.2:c.1312G= NP_001257377.1:p.Gly438=