Canonical Allele Identifier: CA2245701838
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222329T= , CM000679.2:g.7222329T= GRCh38
NC_000017.10:g.7125648T= , CM000679.1:g.7125648T= GRCh37
NC_000017.9:g.7066372T= NCBI36
NG_007975.1:g.7496T=
NG_008391.2:g.2722A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.878+27T= MANE Select ENSP00000349297.5:n.878+27T=
ENST00000322910.9:c.*833+27T= ENSP00000325395.5:n.*833+27T=
ENST00000350303.9:c.812+27T= ENSP00000344152.5:n.812+27T=
ENST00000356839.9:c.878+27T= ENSP00000349297.5:n.878+27T=
ENST00000543245.6:c.947+27T= ENSP00000438689.2:n.947+27T=
ENST00000577191.5:n.1077T=
ENST00000581378.5:c.596+27T=
ENST00000582379.1:n.262+27T=
NM_000018.3:c.878+27T= NP_000009.1:n.878+27T=
NM_001033859.2:c.812+27T= NP_001029031.1:n.812+27T=
NM_001270447.1:c.947+27T= NP_001257376.1:n.947+27T=
NM_001270448.1:c.650+27T= NP_001257377.1:n.650+27T=
XM_006721516.2:c.878+27T= XP_006721579.2:n.878+27T=
XM_011523829.1:c.878+27T= XP_011522131.1:n.878+27T=
XM_011523830.1:c.878+27T= XP_011522132.1:n.878+27T=
XR_934021.1:n.985+27T=
XR_934022.1:n.985+27T=
XR_934023.1:n.985+27T=
XM_006721516.3:c.878+27T= XP_006721579.2:n.878+27T=
XM_011523829.2:c.878+27T= XP_011522131.1:n.878+27T=
XM_011523830.2:c.878+27T= XP_011522132.1:n.878+27T=
XM_024450741.1:c.878+27T= XP_024306509.1:n.878+27T=
XR_934021.2:n.937+27T=
XR_934022.2:n.937+27T=
XR_934023.2:n.937+27T=
NM_000018.4:c.878+27T= MANE Select NP_000009.1:n.878+27T=
NM_001033859.3:c.812+27T= NP_001029031.1:n.812+27T=
NM_001270447.2:c.947+27T= NP_001257376.1:n.947+27T=
NM_001270448.2:c.650+27T= NP_001257377.1:n.650+27T=