Canonical Allele Identifier: CA2245713575
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224250T= , CM000679.2:g.7224250T= GRCh38
NC_000017.10:g.7127569T= , CM000679.1:g.7127569T= GRCh37
NC_000017.9:g.7068293T= NCBI36
NG_007975.1:g.9417T=
NG_008391.2:g.801A=
NG_033038.1:g.15295A=

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1532+7T= MANE Select ENSP00000349297.5:n.1532+7T=
ENST00000322910.9:c.*1487+7T= ENSP00000325395.5:n.*1487+7T=
ENST00000350303.9:c.1466+7T= ENSP00000344152.5:n.1466+7T=
ENST00000356839.9:c.1532+7T= ENSP00000349297.5:n.1532+7T=
ENST00000542255.6:c.390+7T=
ENST00000543245.6:c.1601+7T= ENSP00000438689.2:n.1601+7T=
ENST00000578319.5:n.27+7T=
ENST00000578711.1:n.746T=
ENST00000578809.5:n.34T=
ENST00000579391.1:n.140+7T=
ENST00000579425.5:n.648+7T=
ENST00000579546.1:c.272-71T=
ENST00000579894.5:n.319+7T=
ENST00000583074.5:n.154-71T=
ENST00000583850.5:n.307+7T=
ENST00000583858.5:c.464-71T=
ENST00000585203.6:n.723+7T=
NM_000018.3:c.1532+7T= NP_000009.1:n.1532+7T=
NM_001033859.2:c.1466+7T= NP_001029031.1:n.1466+7T=
NM_001270447.1:c.1601+7T= NP_001257376.1:n.1601+7T=
NM_001270448.1:c.1304+7T= NP_001257377.1:n.1304+7T=
XM_006721516.2:c.1532+7T= XP_006721579.2:n.1532+7T=
XM_011523829.1:c.1435-71T= XP_011522131.1:n.1435-71T=
XM_011523830.1:c.1435-71T= XP_011522132.1:n.1435-71T=
XR_934021.1:n.1639+7T=
XR_934022.1:n.1542-71T=
XR_934023.1:n.1542-71T=
XM_006721516.3:c.1532+7T= XP_006721579.2:n.1532+7T=
XM_011523829.2:c.1435-71T= XP_011522131.1:n.1435-71T=
XM_011523830.2:c.1435-71T= XP_011522132.1:n.1435-71T=
XM_024450741.1:c.1435-71T= XP_024306509.1:n.1435-71T=
XR_934021.2:n.1591+7T=
XR_934022.2:n.1494-71T=
XR_934023.2:n.1494-71T=
NM_000018.4:c.1532+7T= MANE Select NP_000009.1:n.1532+7T=
NM_001033859.3:c.1466+7T= NP_001029031.1:n.1466+7T=
NM_001270447.2:c.1601+7T= NP_001257376.1:n.1601+7T=
NM_001270448.2:c.1304+7T= NP_001257377.1:n.1304+7T=