Canonical Allele Identifier: CA397723124
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221602A>T , CM000679.2:g.7221602A>T GRCh38
NC_000017.10:g.7124921A>T , CM000679.1:g.7124921A>T GRCh37
NC_000017.9:g.7065645A>T NCBI36
NG_007975.1:g.6769A>T
NG_008391.2:g.3449T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.542A>T MANE Select ENSP00000349297.5:p.His181Leu
ENST00000322910.9:c.*497A>T ENSP00000325395.5:n.*497A>T
ENST00000350303.9:c.476A>T ENSP00000344152.5:p.His159Leu
ENST00000356839.9:c.542A>T ENSP00000349297.5:p.His181Leu
ENST00000543245.6:c.611A>T ENSP00000438689.2:p.His204Leu
ENST00000577191.5:n.619A>T
ENST00000577433.5:n.750A>T
ENST00000577857.5:n.358A>T
ENST00000579286.5:n.723A>T
ENST00000579886.2:c.380A>T ENSP00000463246.1:p.His127Leu
ENST00000580365.1:n.273A>T
ENST00000581378.5:c.260A>T
ENST00000581562.5:n.525-350A>T
ENST00000582166.1:n.523A>T
ENST00000583312.5:c.542A>T ENSP00000467920.1:p.His181Leu
ENST00000583760.1:n.324A>T
NM_000018.3:c.542A>T NP_000009.1:p.His181Leu
NM_001033859.2:c.476A>T NP_001029031.1:p.His159Leu
NM_001270447.1:c.611A>T NP_001257376.1:p.His204Leu
NM_001270448.1:c.314A>T NP_001257377.1:p.His105Leu
XM_006721516.2:c.542A>T XP_006721579.2:p.His181Leu
XM_011523829.1:c.542A>T XP_011522131.1:p.His181Leu
XM_011523830.1:c.542A>T XP_011522132.1:p.His181Leu
XR_934021.1:n.649A>T
XR_934022.1:n.649A>T
XR_934023.1:n.649A>T
XM_006721516.3:c.542A>T XP_006721579.2:p.His181Leu
XM_011523829.2:c.542A>T XP_011522131.1:p.His181Leu
XM_011523830.2:c.542A>T XP_011522132.1:p.His181Leu
XM_024450741.1:c.542A>T XP_024306509.1:p.His181Leu
XR_934021.2:n.601A>T
XR_934022.2:n.601A>T
XR_934023.2:n.601A>T
NM_000018.4:c.542A>T MANE Select NP_000009.1:p.His181Leu
NM_001033859.3:c.476A>T NP_001029031.1:p.His159Leu
NM_001270447.2:c.611A>T NP_001257376.1:p.His204Leu
NM_001270448.2:c.314A>T NP_001257377.1:p.His105Leu