Canonical Allele Identifier: CA2245713932
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224377G= , CM000679.2:g.7224377G= GRCh38
NC_000017.10:g.7127696G= , CM000679.1:g.7127696G= GRCh37
NC_000017.9:g.7068420G= NCBI36
NG_007975.1:g.9544G=
NG_008391.2:g.674C=
NG_033038.1:g.15168C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1589G= MANE Select ENSP00000349297.5:p.Ser530=
ENST00000322910.9:c.*1544G= ENSP00000325395.5:n.*1544G=
ENST00000350303.9:c.1523G= ENSP00000344152.5:p.Ser508=
ENST00000356839.9:c.1589G= ENSP00000349297.5:p.Ser530=
ENST00000542255.6:c.447G=
ENST00000543245.6:c.1658G= ENSP00000438689.2:p.Ser553=
ENST00000578319.5:n.84G=
ENST00000578711.1:n.873G=
ENST00000578809.5:n.161G=
ENST00000579391.1:n.197G=
ENST00000579425.5:n.705G=
ENST00000579546.1:c.328G=
ENST00000579894.5:n.376G=
ENST00000582450.1:n.97G=
ENST00000583074.5:n.210G=
ENST00000583850.5:n.364G=
ENST00000583858.5:c.520G=
ENST00000585203.6:n.780G=
NM_000018.3:c.1589G= NP_000009.1:p.Ser530=
NM_001033859.2:c.1523G= NP_001029031.1:p.Ser508=
NM_001270447.1:c.1658G= NP_001257376.1:p.Ser553=
NM_001270448.1:c.1361G= NP_001257377.1:p.Ser454=
XM_006721516.2:c.1589G= XP_006721579.2:p.Ser530=
XM_011523829.1:c.1491G= XP_011522131.1:p.Glu497=
XM_011523830.1:c.1491G= XP_011522132.1:p.Glu497=
XR_934021.1:n.1696G=
XR_934022.1:n.1598G=
XR_934023.1:n.1598G=
XM_006721516.3:c.1589G= XP_006721579.2:p.Ser530=
XM_011523829.2:c.1491G= XP_011522131.1:p.Glu497=
XM_011523830.2:c.1491G= XP_011522132.1:p.Glu497=
XM_024450741.1:c.1491G= XP_024306509.1:p.Glu497=
XR_934021.2:n.1648G=
XR_934022.2:n.1550G=
XR_934023.2:n.1550G=
NM_000018.4:c.1589G= MANE Select NP_000009.1:p.Ser530=
NM_001033859.3:c.1523G= NP_001029031.1:p.Ser508=
NM_001270447.2:c.1658G= NP_001257376.1:p.Ser553=
NM_001270448.2:c.1361G= NP_001257377.1:p.Ser454=
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