Canonical Allele Identifier: CA2245700334
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221638G= , CM000679.2:g.7221638G= GRCh38
NC_000017.10:g.7124957G= , CM000679.1:g.7124957G= GRCh37
NC_000017.9:g.7065681G= NCBI36
NG_007975.1:g.6805G=
NG_008391.2:g.3413C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.578G= MANE Select ENSP00000349297.5:p.Gly193=
ENST00000322910.9:c.*533G= ENSP00000325395.5:n.*533G=
ENST00000350303.9:c.512G= ENSP00000344152.5:p.Gly171=
ENST00000356839.9:c.578G= ENSP00000349297.5:p.Gly193=
ENST00000543245.6:c.647G= ENSP00000438689.2:p.Gly216=
ENST00000577191.5:n.655G=
ENST00000577433.5:n.786G=
ENST00000577857.5:n.394G=
ENST00000579286.5:n.759G=
ENST00000579886.2:c.416G= ENSP00000463246.1:p.Gly139=
ENST00000580365.1:n.309G=
ENST00000581378.5:c.296G=
ENST00000581562.5:n.525-314G=
ENST00000583312.5:c.578G= ENSP00000467920.1:p.Gly193=
ENST00000583760.1:n.360G=
NM_000018.3:c.578G= NP_000009.1:p.Gly193=
NM_001033859.2:c.512G= NP_001029031.1:p.Gly171=
NM_001270447.1:c.647G= NP_001257376.1:p.Gly216=
NM_001270448.1:c.350G= NP_001257377.1:p.Gly117=
XM_006721516.2:c.578G= XP_006721579.2:p.Gly193=
XM_011523829.1:c.578G= XP_011522131.1:p.Gly193=
XM_011523830.1:c.578G= XP_011522132.1:p.Gly193=
XR_934021.1:n.685G=
XR_934022.1:n.685G=
XR_934023.1:n.685G=
XM_006721516.3:c.578G= XP_006721579.2:p.Gly193=
XM_011523829.2:c.578G= XP_011522131.1:p.Gly193=
XM_011523830.2:c.578G= XP_011522132.1:p.Gly193=
XM_024450741.1:c.578G= XP_024306509.1:p.Gly193=
XR_934021.2:n.637G=
XR_934022.2:n.637G=
XR_934023.2:n.637G=
NM_000018.4:c.578G= MANE Select NP_000009.1:p.Gly193=
NM_001033859.3:c.512G= NP_001029031.1:p.Gly171=
NM_001270447.2:c.647G= NP_001257376.1:p.Gly216=
NM_001270448.2:c.350G= NP_001257377.1:p.Gly117=