Canonical Allele Identifier: CA397723046
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2800714
ClinVar RCV Id: RCV003601366

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221563G>C , CM000679.2:g.7221563G>C GRCh38
NC_000017.10:g.7124882G>C , CM000679.1:g.7124882G>C GRCh37
NC_000017.9:g.7065606G>C NCBI36
NG_007975.1:g.6730G>C
NG_008391.2:g.3488C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.503G>C MANE Select ENSP00000349297.5:p.Gly168Ala
ENST00000322910.9:c.*458G>C ENSP00000325395.5:n.*458G>C
ENST00000350303.9:c.437G>C ENSP00000344152.5:p.Gly146Ala
ENST00000356839.9:c.503G>C ENSP00000349297.5:p.Gly168Ala
ENST00000543245.6:c.572G>C ENSP00000438689.2:p.Gly191Ala
ENST00000577191.5:n.580G>C
ENST00000577433.5:n.711G>C
ENST00000577857.5:n.319G>C
ENST00000579286.5:n.684G>C
ENST00000579886.2:c.341G>C ENSP00000463246.1:p.Gly114Ala
ENST00000580365.1:n.234G>C
ENST00000581378.5:c.221G>C
ENST00000581562.5:n.525-389G>C
ENST00000582166.1:n.484G>C
ENST00000583312.5:c.503G>C ENSP00000467920.1:p.Gly168Ala
ENST00000583760.1:n.285G>C
NM_000018.3:c.503G>C NP_000009.1:p.Gly168Ala
NM_001033859.2:c.437G>C NP_001029031.1:p.Gly146Ala
NM_001270447.1:c.572G>C NP_001257376.1:p.Gly191Ala
NM_001270448.1:c.275G>C NP_001257377.1:p.Gly92Ala
XM_006721516.2:c.503G>C XP_006721579.2:p.Gly168Ala
XM_011523829.1:c.503G>C XP_011522131.1:p.Gly168Ala
XM_011523830.1:c.503G>C XP_011522132.1:p.Gly168Ala
XR_934021.1:n.610G>C
XR_934022.1:n.610G>C
XR_934023.1:n.610G>C
XM_006721516.3:c.503G>C XP_006721579.2:p.Gly168Ala
XM_011523829.2:c.503G>C XP_011522131.1:p.Gly168Ala
XM_011523830.2:c.503G>C XP_011522132.1:p.Gly168Ala
XM_024450741.1:c.503G>C XP_024306509.1:p.Gly168Ala
XR_934021.2:n.562G>C
XR_934022.2:n.562G>C
XR_934023.2:n.562G>C
NM_000018.4:c.503G>C MANE Select NP_000009.1:p.Gly168Ala
NM_001033859.3:c.437G>C NP_001029031.1:p.Gly146Ala
NM_001270447.2:c.572G>C NP_001257376.1:p.Gly191Ala
NM_001270448.2:c.275G>C NP_001257377.1:p.Gly92Ala