Canonical Allele Identifier: CA397723127
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221604C>A , CM000679.2:g.7221604C>A GRCh38
NC_000017.10:g.7124923C>A , CM000679.1:g.7124923C>A GRCh37
NC_000017.9:g.7065647C>A NCBI36
NG_007975.1:g.6771C>A
NG_008391.2:g.3447G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.544C>A MANE Select ENSP00000349297.5:p.Gln182Lys
ENST00000322910.9:c.*499C>A ENSP00000325395.5:n.*499C>A
ENST00000350303.9:c.478C>A ENSP00000344152.5:p.Gln160Lys
ENST00000356839.9:c.544C>A ENSP00000349297.5:p.Gln182Lys
ENST00000543245.6:c.613C>A ENSP00000438689.2:p.Gln205Lys
ENST00000577191.5:n.621C>A
ENST00000577433.5:n.752C>A
ENST00000577857.5:n.360C>A
ENST00000579286.5:n.725C>A
ENST00000579886.2:c.382C>A ENSP00000463246.1:p.Gln128Lys
ENST00000580365.1:n.275C>A
ENST00000581378.5:c.262C>A
ENST00000581562.5:n.525-348C>A
ENST00000582166.1:n.525C>A
ENST00000583312.5:c.544C>A ENSP00000467920.1:p.Gln182Lys
ENST00000583760.1:n.326C>A
NM_000018.3:c.544C>A NP_000009.1:p.Gln182Lys
NM_001033859.2:c.478C>A NP_001029031.1:p.Gln160Lys
NM_001270447.1:c.613C>A NP_001257376.1:p.Gln205Lys
NM_001270448.1:c.316C>A NP_001257377.1:p.Gln106Lys
XM_006721516.2:c.544C>A XP_006721579.2:p.Gln182Lys
XM_011523829.1:c.544C>A XP_011522131.1:p.Gln182Lys
XM_011523830.1:c.544C>A XP_011522132.1:p.Gln182Lys
XR_934021.1:n.651C>A
XR_934022.1:n.651C>A
XR_934023.1:n.651C>A
XM_006721516.3:c.544C>A XP_006721579.2:p.Gln182Lys
XM_011523829.2:c.544C>A XP_011522131.1:p.Gln182Lys
XM_011523830.2:c.544C>A XP_011522132.1:p.Gln182Lys
XM_024450741.1:c.544C>A XP_024306509.1:p.Gln182Lys
XR_934021.2:n.603C>A
XR_934022.2:n.603C>A
XR_934023.2:n.603C>A
NM_000018.4:c.544C>A MANE Select NP_000009.1:p.Gln182Lys
NM_001033859.3:c.478C>A NP_001029031.1:p.Gln160Lys
NM_001270447.2:c.613C>A NP_001257376.1:p.Gln205Lys
NM_001270448.2:c.316C>A NP_001257377.1:p.Gln106Lys