Canonical Allele Identifier: CA2245714037
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224395T= , CM000679.2:g.7224395T= GRCh38
NC_000017.10:g.7127714T= , CM000679.1:g.7127714T= GRCh37
NC_000017.9:g.7068438T= NCBI36
NG_007975.1:g.9562T=
NG_008391.2:g.656A=
NG_033038.1:g.15150A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1605+2T= MANE Select ENSP00000349297.5:n.1605+2T=
ENST00000322910.9:c.*1560+2T= ENSP00000325395.5:n.*1560+2T=
ENST00000350303.9:c.1539+2T= ENSP00000344152.5:n.1539+2T=
ENST00000356839.9:c.1605+2T= ENSP00000349297.5:n.1605+2T=
ENST00000542255.6:c.463+2T=
ENST00000543245.6:c.1674+2T= ENSP00000438689.2:n.1674+2T=
ENST00000578319.5:n.102T=
ENST00000578711.1:n.891T=
ENST00000578809.5:n.177+2T=
ENST00000579391.1:n.213+2T=
ENST00000579425.5:n.721+2T=
ENST00000579546.1:c.344+2T=
ENST00000579894.5:n.392+2T=
ENST00000582450.1:n.113+2T=
ENST00000583074.5:n.226+2T=
ENST00000583850.5:n.380+2T=
ENST00000583858.5:c.536+2T=
ENST00000585203.6:n.796+2T=
NM_000018.3:c.1605+2T= NP_000009.1:n.1605+2T=
NM_001033859.2:c.1539+2T= NP_001029031.1:n.1539+2T=
NM_001270447.1:c.1674+2T= NP_001257376.1:n.1674+2T=
NM_001270448.1:c.1377+2T= NP_001257377.1:n.1377+2T=
XM_006721516.2:c.1605+2T= XP_006721579.2:n.1605+2T=
XM_011523829.1:c.1507+2T= XP_011522131.1:n.1507+2T=
XM_011523830.1:c.1507+2T= XP_011522132.1:n.1507+2T=
XR_934021.1:n.1712+2T=
XR_934022.1:n.1614+2T=
XR_934023.1:n.1614+2T=
XM_006721516.3:c.1605+2T= XP_006721579.2:n.1605+2T=
XM_011523829.2:c.1507+2T= XP_011522131.1:n.1507+2T=
XM_011523830.2:c.1507+2T= XP_011522132.1:n.1507+2T=
XM_024450741.1:c.1509T= XP_024306509.1:p.Gly503=
XR_934021.2:n.1664+2T=
XR_934022.2:n.1566+2T=
XR_934023.2:n.1566+2T=
NM_000018.4:c.1605+2T= MANE Select NP_000009.1:n.1605+2T=
NM_001033859.3:c.1539+2T= NP_001029031.1:n.1539+2T=
NM_001270447.2:c.1674+2T= NP_001257376.1:n.1674+2T=
NM_001270448.2:c.1377+2T= NP_001257377.1:n.1377+2T=