Canonical Allele Identifier: CA2245713285
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224180C= , CM000679.2:g.7224180C= GRCh38
NC_000017.10:g.7127499C= , CM000679.1:g.7127499C= GRCh37
NC_000017.9:g.7068223C= NCBI36
NG_007975.1:g.9347C=
NG_008391.2:g.871G=
NG_033038.1:g.15365G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1469C= MANE Select ENSP00000349297.5:p.Ala490=
ENST00000322910.9:c.*1424C= ENSP00000325395.5:n.*1424C=
ENST00000350303.9:c.1403C= ENSP00000344152.5:p.Ala468=
ENST00000356839.9:c.1469C= ENSP00000349297.5:p.Ala490=
ENST00000542255.6:c.327C=
ENST00000543245.6:c.1538C= ENSP00000438689.2:p.Ala513=
ENST00000578711.1:n.676C=
ENST00000579391.1:n.77C=
ENST00000579425.5:n.585C=
ENST00000579546.1:c.271+111C=
ENST00000579894.5:n.256C=
ENST00000583074.5:n.153+111C=
ENST00000583850.5:n.244C=
ENST00000583858.5:c.463+111C=
ENST00000585203.6:n.660C=
NM_000018.3:c.1469C= NP_000009.1:p.Ala490=
NM_001033859.2:c.1403C= NP_001029031.1:p.Ala468=
NM_001270447.1:c.1538C= NP_001257376.1:p.Ala513=
NM_001270448.1:c.1241C= NP_001257377.1:p.Ala414=
XM_006721516.2:c.1469C= XP_006721579.2:p.Ala490=
XM_011523829.1:c.1434+111C= XP_011522131.1:n.1434+111C=
XM_011523830.1:c.1434+111C= XP_011522132.1:n.1434+111C=
XR_934021.1:n.1576C=
XR_934022.1:n.1541+111C=
XR_934023.1:n.1541+111C=
XM_006721516.3:c.1469C= XP_006721579.2:p.Ala490=
XM_011523829.2:c.1434+111C= XP_011522131.1:n.1434+111C=
XM_011523830.2:c.1434+111C= XP_011522132.1:n.1434+111C=
XM_024450741.1:c.1434+111C= XP_024306509.1:n.1434+111C=
XR_934021.2:n.1528C=
XR_934022.2:n.1493+111C=
XR_934023.2:n.1493+111C=
NM_000018.4:c.1469C= MANE Select NP_000009.1:p.Ala490=
NM_001033859.3:c.1403C= NP_001029031.1:p.Ala468=
NM_001270447.2:c.1538C= NP_001257376.1:p.Ala513=
NM_001270448.2:c.1241C= NP_001257377.1:p.Ala414=
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