Canonical Allele Identifier: CA2245714119
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224410C= , CM000679.2:g.7224410C= GRCh38
NC_000017.10:g.7127729C= , CM000679.1:g.7127729C= GRCh37
NC_000017.9:g.7068453C= NCBI36
NG_007975.1:g.9577C=
NG_008391.2:g.641G=
NG_033038.1:g.15135G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1605+17C= MANE Select ENSP00000349297.5:n.1605+17C=
ENST00000322910.9:c.*1560+17C= ENSP00000325395.5:n.*1560+17C=
ENST00000350303.9:c.1539+17C= ENSP00000344152.5:n.1539+17C=
ENST00000356839.9:c.1605+17C= ENSP00000349297.5:n.1605+17C=
ENST00000542255.6:c.463+17C=
ENST00000543245.6:c.1674+17C= ENSP00000438689.2:n.1674+17C=
ENST00000578319.5:n.117C=
ENST00000578711.1:n.906C=
ENST00000578809.5:n.177+17C=
ENST00000579391.1:n.213+17C=
ENST00000579425.5:n.721+17C=
ENST00000579546.1:c.344+17C=
ENST00000579894.5:n.392+17C=
ENST00000582450.1:n.113+17C=
ENST00000583074.5:n.226+17C=
ENST00000583850.5:n.380+17C=
ENST00000583858.5:c.536+17C=
ENST00000585203.6:n.796+17C=
NM_000018.3:c.1605+17C= NP_000009.1:n.1605+17C=
NM_001033859.2:c.1539+17C= NP_001029031.1:n.1539+17C=
NM_001270447.1:c.1674+17C= NP_001257376.1:n.1674+17C=
NM_001270448.1:c.1377+17C= NP_001257377.1:n.1377+17C=
XM_006721516.2:c.1605+17C= XP_006721579.2:n.1605+17C=
XM_011523829.1:c.1507+17C= XP_011522131.1:n.1507+17C=
XM_011523830.1:c.1507+17C= XP_011522132.1:n.1507+17C=
XR_934021.1:n.1712+17C=
XR_934022.1:n.1614+17C=
XR_934023.1:n.1614+17C=
XM_006721516.3:c.1605+17C= XP_006721579.2:n.1605+17C=
XM_011523829.2:c.1507+17C= XP_011522131.1:n.1507+17C=
XM_011523830.2:c.1507+17C= XP_011522132.1:n.1507+17C=
XM_024450741.1:c.1524C= XP_024306509.1:p.Val508=
XR_934021.2:n.1664+17C=
XR_934022.2:n.1566+17C=
XR_934023.2:n.1566+17C=
NM_000018.4:c.1605+17C= MANE Select NP_000009.1:n.1605+17C=
NM_001033859.3:c.1539+17C= NP_001029031.1:n.1539+17C=
NM_001270447.2:c.1674+17C= NP_001257376.1:n.1674+17C=
NM_001270448.2:c.1377+17C= NP_001257377.1:n.1377+17C=