Canonical Allele Identifier: CA397723375
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2671896
ClinVar RCV Id: RCV003455820
gnomAD v4: 17-7221972-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221972T>C , CM000679.2:g.7221972T>C GRCh38
NC_000017.10:g.7125291T>C , CM000679.1:g.7125291T>C GRCh37
NC_000017.9:g.7066015T>C NCBI36
NG_007975.1:g.7139T>C
NG_008391.2:g.3079A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.643T>C MANE Select ENSP00000349297.5:p.Cys215Arg
ENST00000322910.9:c.*598T>C ENSP00000325395.5:n.*598T>C
ENST00000350303.9:c.577T>C ENSP00000344152.5:p.Cys193Arg
ENST00000356839.9:c.643T>C ENSP00000349297.5:p.Cys215Arg
ENST00000543245.6:c.712T>C ENSP00000438689.2:p.Cys238Arg
ENST00000577191.5:n.720T>C
ENST00000577857.5:n.459T>C
ENST00000579286.5:n.824T>C
ENST00000580365.1:n.374T>C
ENST00000581378.5:c.361T>C
ENST00000581562.5:n.545T>C
ENST00000582379.1:n.27T>C
ENST00000583312.5:c.658T>C ENSP00000467920.1:p.Cys220Arg
ENST00000583760.1:n.425T>C
NM_000018.3:c.643T>C NP_000009.1:p.Cys215Arg
NM_001033859.2:c.577T>C NP_001029031.1:p.Cys193Arg
NM_001270447.1:c.712T>C NP_001257376.1:p.Cys238Arg
NM_001270448.1:c.415T>C NP_001257377.1:p.Cys139Arg
XM_006721516.2:c.643T>C XP_006721579.2:p.Cys215Arg
XM_011523829.1:c.643T>C XP_011522131.1:p.Cys215Arg
XM_011523830.1:c.643T>C XP_011522132.1:p.Cys215Arg
XR_934021.1:n.750T>C
XR_934022.1:n.750T>C
XR_934023.1:n.750T>C
XM_006721516.3:c.643T>C XP_006721579.2:p.Cys215Arg
XM_011523829.2:c.643T>C XP_011522131.1:p.Cys215Arg
XM_011523830.2:c.643T>C XP_011522132.1:p.Cys215Arg
XM_024450741.1:c.643T>C XP_024306509.1:p.Cys215Arg
XR_934021.2:n.702T>C
XR_934022.2:n.702T>C
XR_934023.2:n.702T>C
NM_000018.4:c.643T>C MANE Select NP_000009.1:p.Cys215Arg
NM_001033859.3:c.577T>C NP_001029031.1:p.Cys193Arg
NM_001270447.2:c.712T>C NP_001257376.1:p.Cys238Arg
NM_001270448.2:c.415T>C NP_001257377.1:p.Cys139Arg