Canonical Allele Identifier: CA220211
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 92285
dbSNP Id: rs370169077
gnomAD v2: 17-7124874-G-T
gnomAD v3: 17-7221555-G-T
gnomAD v4: 17-7221555-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221555G>T , CM000679.2:g.7221555G>T GRCh38
NC_000017.10:g.7124874G>T , CM000679.1:g.7124874G>T GRCh37
NC_000017.9:g.7065598G>T NCBI36
NG_007975.1:g.6722G>T
NG_008391.2:g.3496C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.495G>T MANE Select ENSP00000349297.5:p.Glu165Asp
ENST00000322910.9:c.*450G>T ENSP00000325395.5:n.*450G>T
ENST00000350303.9:c.429G>T ENSP00000344152.5:p.Glu143Asp
ENST00000356839.9:c.495G>T ENSP00000349297.5:p.Glu165Asp
ENST00000543245.6:c.564G>T ENSP00000438689.2:p.Glu188Asp
ENST00000577191.5:n.572G>T
ENST00000577433.5:n.703G>T
ENST00000577857.5:n.311G>T
ENST00000579286.5:n.676G>T
ENST00000579886.2:c.333G>T ENSP00000463246.1:p.Glu111Asp
ENST00000580365.1:n.226G>T
ENST00000581378.5:c.213G>T
ENST00000581562.5:n.525-397G>T
ENST00000582166.1:n.476G>T
ENST00000583312.5:c.495G>T ENSP00000467920.1:p.Glu165Asp
ENST00000583760.1:n.277G>T
NM_000018.3:c.495G>T NP_000009.1:p.Glu165Asp
NM_001033859.2:c.429G>T NP_001029031.1:p.Glu143Asp
NM_001270447.1:c.564G>T NP_001257376.1:p.Glu188Asp
NM_001270448.1:c.267G>T NP_001257377.1:p.Glu89Asp
XM_006721516.2:c.495G>T XP_006721579.2:p.Glu165Asp
XM_011523829.1:c.495G>T XP_011522131.1:p.Glu165Asp
XM_011523830.1:c.495G>T XP_011522132.1:p.Glu165Asp
XR_934021.1:n.602G>T
XR_934022.1:n.602G>T
XR_934023.1:n.602G>T
XM_006721516.3:c.495G>T XP_006721579.2:p.Glu165Asp
XM_011523829.2:c.495G>T XP_011522131.1:p.Glu165Asp
XM_011523830.2:c.495G>T XP_011522132.1:p.Glu165Asp
XM_024450741.1:c.495G>T XP_024306509.1:p.Glu165Asp
XR_934021.2:n.554G>T
XR_934022.2:n.554G>T
XR_934023.2:n.554G>T
NM_000018.4:c.495G>T MANE Select NP_000009.1:p.Glu165Asp
NM_001033859.3:c.429G>T NP_001029031.1:p.Glu143Asp
NM_001270447.2:c.564G>T NP_001257376.1:p.Glu188Asp
NM_001270448.2:c.267G>T NP_001257377.1:p.Glu89Asp