Canonical Allele Identifier: CA397723132
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221605A>T , CM000679.2:g.7221605A>T GRCh38
NC_000017.10:g.7124924A>T , CM000679.1:g.7124924A>T GRCh37
NC_000017.9:g.7065648A>T NCBI36
NG_007975.1:g.6772A>T
NG_008391.2:g.3446T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.545A>T MANE Select ENSP00000349297.5:p.Gln182Leu
ENST00000322910.9:c.*500A>T ENSP00000325395.5:n.*500A>T
ENST00000350303.9:c.479A>T ENSP00000344152.5:p.Gln160Leu
ENST00000356839.9:c.545A>T ENSP00000349297.5:p.Gln182Leu
ENST00000543245.6:c.614A>T ENSP00000438689.2:p.Gln205Leu
ENST00000577191.5:n.622A>T
ENST00000577433.5:n.753A>T
ENST00000577857.5:n.361A>T
ENST00000579286.5:n.726A>T
ENST00000579886.2:c.383A>T ENSP00000463246.1:p.Gln128Leu
ENST00000580365.1:n.276A>T
ENST00000581378.5:c.263A>T
ENST00000581562.5:n.525-347A>T
ENST00000582166.1:n.526A>T
ENST00000583312.5:c.545A>T ENSP00000467920.1:p.Gln182Leu
ENST00000583760.1:n.327A>T
NM_000018.3:c.545A>T NP_000009.1:p.Gln182Leu
NM_001033859.2:c.479A>T NP_001029031.1:p.Gln160Leu
NM_001270447.1:c.614A>T NP_001257376.1:p.Gln205Leu
NM_001270448.1:c.317A>T NP_001257377.1:p.Gln106Leu
XM_006721516.2:c.545A>T XP_006721579.2:p.Gln182Leu
XM_011523829.1:c.545A>T XP_011522131.1:p.Gln182Leu
XM_011523830.1:c.545A>T XP_011522132.1:p.Gln182Leu
XR_934021.1:n.652A>T
XR_934022.1:n.652A>T
XR_934023.1:n.652A>T
XM_006721516.3:c.545A>T XP_006721579.2:p.Gln182Leu
XM_011523829.2:c.545A>T XP_011522131.1:p.Gln182Leu
XM_011523830.2:c.545A>T XP_011522132.1:p.Gln182Leu
XM_024450741.1:c.545A>T XP_024306509.1:p.Gln182Leu
XR_934021.2:n.604A>T
XR_934022.2:n.604A>T
XR_934023.2:n.604A>T
NM_000018.4:c.545A>T MANE Select NP_000009.1:p.Gln182Leu
NM_001033859.3:c.479A>T NP_001029031.1:p.Gln160Leu
NM_001270447.2:c.614A>T NP_001257376.1:p.Gln205Leu
NM_001270448.2:c.317A>T NP_001257377.1:p.Gln106Leu