Canonical Allele Identifier: CA2245700326
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221636T= , CM000679.2:g.7221636T= GRCh38
NC_000017.10:g.7124955T= , CM000679.1:g.7124955T= GRCh37
NC_000017.9:g.7065679T= NCBI36
NG_007975.1:g.6803T=
NG_008391.2:g.3415A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.576T= MANE Select ENSP00000349297.5:p.Phe192=
ENST00000322910.9:c.*531T= ENSP00000325395.5:n.*531T=
ENST00000350303.9:c.510T= ENSP00000344152.5:p.Phe170=
ENST00000356839.9:c.576T= ENSP00000349297.5:p.Phe192=
ENST00000543245.6:c.645T= ENSP00000438689.2:p.Phe215=
ENST00000577191.5:n.653T=
ENST00000577433.5:n.784T=
ENST00000577857.5:n.392T=
ENST00000579286.5:n.757T=
ENST00000579886.2:c.414T= ENSP00000463246.1:p.Phe138=
ENST00000580365.1:n.307T=
ENST00000581378.5:c.294T=
ENST00000581562.5:n.525-316T=
ENST00000583312.5:c.576T= ENSP00000467920.1:p.Phe192=
ENST00000583760.1:n.358T=
NM_000018.3:c.576T= NP_000009.1:p.Phe192=
NM_001033859.2:c.510T= NP_001029031.1:p.Phe170=
NM_001270447.1:c.645T= NP_001257376.1:p.Phe215=
NM_001270448.1:c.348T= NP_001257377.1:p.Phe116=
XM_006721516.2:c.576T= XP_006721579.2:p.Phe192=
XM_011523829.1:c.576T= XP_011522131.1:p.Phe192=
XM_011523830.1:c.576T= XP_011522132.1:p.Phe192=
XR_934021.1:n.683T=
XR_934022.1:n.683T=
XR_934023.1:n.683T=
XM_006721516.3:c.576T= XP_006721579.2:p.Phe192=
XM_011523829.2:c.576T= XP_011522131.1:p.Phe192=
XM_011523830.2:c.576T= XP_011522132.1:p.Phe192=
XM_024450741.1:c.576T= XP_024306509.1:p.Phe192=
XR_934021.2:n.635T=
XR_934022.2:n.635T=
XR_934023.2:n.635T=
NM_000018.4:c.576T= MANE Select NP_000009.1:p.Phe192=
NM_001033859.3:c.510T= NP_001029031.1:p.Phe170=
NM_001270447.2:c.645T= NP_001257376.1:p.Phe215=
NM_001270448.2:c.348T= NP_001257377.1:p.Phe116=