Canonical Allele Identifier: CA2245700322
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221635T= , CM000679.2:g.7221635T= GRCh38
NC_000017.10:g.7124954T= , CM000679.1:g.7124954T= GRCh37
NC_000017.9:g.7065678T= NCBI36
NG_007975.1:g.6802T=
NG_008391.2:g.3416A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.575T= MANE Select ENSP00000349297.5:p.Phe192=
ENST00000322910.9:c.*530T= ENSP00000325395.5:n.*530T=
ENST00000350303.9:c.509T= ENSP00000344152.5:p.Phe170=
ENST00000356839.9:c.575T= ENSP00000349297.5:p.Phe192=
ENST00000543245.6:c.644T= ENSP00000438689.2:p.Phe215=
ENST00000577191.5:n.652T=
ENST00000577433.5:n.783T=
ENST00000577857.5:n.391T=
ENST00000579286.5:n.756T=
ENST00000579886.2:c.413T= ENSP00000463246.1:p.Phe138=
ENST00000580365.1:n.306T=
ENST00000581378.5:c.293T=
ENST00000581562.5:n.525-317T=
ENST00000583312.5:c.575T= ENSP00000467920.1:p.Phe192=
ENST00000583760.1:n.357T=
NM_000018.3:c.575T= NP_000009.1:p.Phe192=
NM_001033859.2:c.509T= NP_001029031.1:p.Phe170=
NM_001270447.1:c.644T= NP_001257376.1:p.Phe215=
NM_001270448.1:c.347T= NP_001257377.1:p.Phe116=
XM_006721516.2:c.575T= XP_006721579.2:p.Phe192=
XM_011523829.1:c.575T= XP_011522131.1:p.Phe192=
XM_011523830.1:c.575T= XP_011522132.1:p.Phe192=
XR_934021.1:n.682T=
XR_934022.1:n.682T=
XR_934023.1:n.682T=
XM_006721516.3:c.575T= XP_006721579.2:p.Phe192=
XM_011523829.2:c.575T= XP_011522131.1:p.Phe192=
XM_011523830.2:c.575T= XP_011522132.1:p.Phe192=
XM_024450741.1:c.575T= XP_024306509.1:p.Phe192=
XR_934021.2:n.634T=
XR_934022.2:n.634T=
XR_934023.2:n.634T=
NM_000018.4:c.575T= MANE Select NP_000009.1:p.Phe192=
NM_001033859.3:c.509T= NP_001029031.1:p.Phe170=
NM_001270447.2:c.644T= NP_001257376.1:p.Phe215=
NM_001270448.2:c.347T= NP_001257377.1:p.Phe116=