Canonical Allele Identifier: CA2245713288
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224181T= , CM000679.2:g.7224181T= GRCh38
NC_000017.10:g.7127500T= , CM000679.1:g.7127500T= GRCh37
NC_000017.9:g.7068224T= NCBI36
NG_007975.1:g.9348T=
NG_008391.2:g.870A=
NG_033038.1:g.15364A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1470T= MANE Select ENSP00000349297.5:p.Ala490=
ENST00000322910.9:c.*1425T= ENSP00000325395.5:n.*1425T=
ENST00000350303.9:c.1404T= ENSP00000344152.5:p.Ala468=
ENST00000356839.9:c.1470T= ENSP00000349297.5:p.Ala490=
ENST00000542255.6:c.328T=
ENST00000543245.6:c.1539T= ENSP00000438689.2:p.Ala513=
ENST00000578711.1:n.677T=
ENST00000579391.1:n.78T=
ENST00000579425.5:n.586T=
ENST00000579546.1:c.271+112T=
ENST00000579894.5:n.257T=
ENST00000583074.5:n.153+112T=
ENST00000583850.5:n.245T=
ENST00000583858.5:c.463+112T=
ENST00000585203.6:n.661T=
NM_000018.3:c.1470T= NP_000009.1:p.Ala490=
NM_001033859.2:c.1404T= NP_001029031.1:p.Ala468=
NM_001270447.1:c.1539T= NP_001257376.1:p.Ala513=
NM_001270448.1:c.1242T= NP_001257377.1:p.Ala414=
XM_006721516.2:c.1470T= XP_006721579.2:p.Ala490=
XM_011523829.1:c.1434+112T= XP_011522131.1:n.1434+112T=
XM_011523830.1:c.1434+112T= XP_011522132.1:n.1434+112T=
XR_934021.1:n.1577T=
XR_934022.1:n.1541+112T=
XR_934023.1:n.1541+112T=
XM_006721516.3:c.1470T= XP_006721579.2:p.Ala490=
XM_011523829.2:c.1434+112T= XP_011522131.1:n.1434+112T=
XM_011523830.2:c.1434+112T= XP_011522132.1:n.1434+112T=
XM_024450741.1:c.1434+112T= XP_024306509.1:n.1434+112T=
XR_934021.2:n.1529T=
XR_934022.2:n.1493+112T=
XR_934023.2:n.1493+112T=
NM_000018.4:c.1470T= MANE Select NP_000009.1:p.Ala490=
NM_001033859.3:c.1404T= NP_001029031.1:p.Ala468=
NM_001270447.2:c.1539T= NP_001257376.1:p.Ala513=
NM_001270448.2:c.1242T= NP_001257377.1:p.Ala414=
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