Canonical Allele Identifier: CA2245714393
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224486C= , CM000679.2:g.7224486C= GRCh38
NC_000017.10:g.7127805C= , CM000679.1:g.7127805C= GRCh37
NC_000017.9:g.7068529C= NCBI36
NG_007975.1:g.9653C=
NG_008391.2:g.565G=
NG_033038.1:g.15059G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1612C= MANE Select ENSP00000349297.5:p.Arg538=
ENST00000322910.9:c.*1567C= ENSP00000325395.5:n.*1567C=
ENST00000350303.9:c.1546C= ENSP00000344152.5:p.Arg516=
ENST00000356839.9:c.1612C= ENSP00000349297.5:p.Arg538=
ENST00000542255.6:c.470C=
ENST00000543245.6:c.1681C= ENSP00000438689.2:p.Arg561=
ENST00000578319.5:n.193C=
ENST00000578711.1:n.982C=
ENST00000578809.5:n.184C=
ENST00000579391.1:n.216C=
ENST00000579425.5:n.728C=
ENST00000579546.1:c.347C=
ENST00000579894.5:n.399C=
ENST00000582450.1:n.120C=
ENST00000583074.5:n.233C=
ENST00000583850.5:n.383C=
ENST00000583858.5:c.543C=
ENST00000585203.6:n.803C=
NM_000018.3:c.1612C= NP_000009.1:p.Arg538=
NM_001033859.2:c.1546C= NP_001029031.1:p.Arg516=
NM_001270447.1:c.1681C= NP_001257376.1:p.Arg561=
NM_001270448.1:c.1384C= NP_001257377.1:p.Arg462=
XM_006721516.2:c.1612C= XP_006721579.2:p.Arg538=
XM_011523829.1:c.1510C= XP_011522131.1:p.Arg504=
XM_011523830.1:c.1510C= XP_011522132.1:p.Arg504=
XR_934021.1:n.1715C=
XR_934022.1:n.1621C=
XR_934023.1:n.1621C=
XM_006721516.3:c.1612C= XP_006721579.2:p.Arg538=
XM_011523829.2:c.1510C= XP_011522131.1:p.Arg504=
XM_011523830.2:c.1510C= XP_011522132.1:p.Arg504=
XM_024450741.1:c.1600C= XP_024306509.1:p.Arg534=
XR_934021.2:n.1667C=
XR_934022.2:n.1573C=
XR_934023.2:n.1573C=
NM_000018.4:c.1612C= MANE Select NP_000009.1:p.Arg538=
NM_001033859.3:c.1546C= NP_001029031.1:p.Arg516=
NM_001270447.2:c.1681C= NP_001257376.1:p.Arg561=
NM_001270448.2:c.1384C= NP_001257377.1:p.Arg462=
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