Canonical Allele Identifier: CA2245714167
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224426C= , CM000679.2:g.7224426C= GRCh38
NC_000017.10:g.7127745C= , CM000679.1:g.7127745C= GRCh37
NC_000017.9:g.7068469C= NCBI36
NG_007975.1:g.9593C=
NG_008391.2:g.625G=
NG_033038.1:g.15119G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1605+33C= MANE Select ENSP00000349297.5:n.1605+33C=
ENST00000322910.9:c.*1560+33C= ENSP00000325395.5:n.*1560+33C=
ENST00000350303.9:c.1539+33C= ENSP00000344152.5:n.1539+33C=
ENST00000356839.9:c.1605+33C= ENSP00000349297.5:n.1605+33C=
ENST00000542255.6:c.463+33C=
ENST00000543245.6:c.1674+33C= ENSP00000438689.2:n.1674+33C=
ENST00000578319.5:n.133C=
ENST00000578711.1:n.922C=
ENST00000578809.5:n.177+33C=
ENST00000579391.1:n.213+33C=
ENST00000579425.5:n.721+33C=
ENST00000579546.1:c.344+33C=
ENST00000579894.5:n.392+33C=
ENST00000582450.1:n.113+33C=
ENST00000583074.5:n.226+33C=
ENST00000583850.5:n.380+33C=
ENST00000583858.5:c.536+33C=
ENST00000585203.6:n.796+33C=
NM_000018.3:c.1605+33C= NP_000009.1:n.1605+33C=
NM_001033859.2:c.1539+33C= NP_001029031.1:n.1539+33C=
NM_001270447.1:c.1674+33C= NP_001257376.1:n.1674+33C=
NM_001270448.1:c.1377+33C= NP_001257377.1:n.1377+33C=
XM_006721516.2:c.1605+33C= XP_006721579.2:n.1605+33C=
XM_011523829.1:c.1507+33C= XP_011522131.1:n.1507+33C=
XM_011523830.1:c.1507+33C= XP_011522132.1:n.1507+33C=
XR_934021.1:n.1712+33C=
XR_934022.1:n.1614+33C=
XR_934023.1:n.1614+33C=
XM_006721516.3:c.1605+33C= XP_006721579.2:n.1605+33C=
XM_011523829.2:c.1507+33C= XP_011522131.1:n.1507+33C=
XM_011523830.2:c.1507+33C= XP_011522132.1:n.1507+33C=
XM_024450741.1:c.1540C= XP_024306509.1:p.Gln514=
XR_934021.2:n.1664+33C=
XR_934022.2:n.1566+33C=
XR_934023.2:n.1566+33C=
NM_000018.4:c.1605+33C= MANE Select NP_000009.1:n.1605+33C=
NM_001033859.3:c.1539+33C= NP_001029031.1:n.1539+33C=
NM_001270447.2:c.1674+33C= NP_001257376.1:n.1674+33C=
NM_001270448.2:c.1377+33C= NP_001257377.1:n.1377+33C=