Canonical Allele Identifier: CA397723020
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2804326
ClinVar RCV Id: RCV003601428
gnomAD v4: 17-7221551-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221551T>A , CM000679.2:g.7221551T>A GRCh38
NC_000017.10:g.7124870T>A , CM000679.1:g.7124870T>A GRCh37
NC_000017.9:g.7065594T>A NCBI36
NG_007975.1:g.6718T>A
NG_008391.2:g.3500A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.491T>A MANE Select ENSP00000349297.5:p.Val164Glu
ENST00000322910.9:c.*446T>A ENSP00000325395.5:n.*446T>A
ENST00000350303.9:c.425T>A ENSP00000344152.5:p.Val142Glu
ENST00000356839.9:c.491T>A ENSP00000349297.5:p.Val164Glu
ENST00000543245.6:c.560T>A ENSP00000438689.2:p.Val187Glu
ENST00000577191.5:n.568T>A
ENST00000577433.5:n.699T>A
ENST00000577857.5:n.307T>A
ENST00000579286.5:n.672T>A
ENST00000579886.2:c.329T>A ENSP00000463246.1:p.Val110Glu
ENST00000580365.1:n.222T>A
ENST00000581378.5:c.209T>A
ENST00000581562.5:n.525-401T>A
ENST00000582166.1:n.472T>A
ENST00000583312.5:c.491T>A ENSP00000467920.1:p.Val164Glu
ENST00000583760.1:n.273T>A
NM_000018.3:c.491T>A NP_000009.1:p.Val164Glu
NM_001033859.2:c.425T>A NP_001029031.1:p.Val142Glu
NM_001270447.1:c.560T>A NP_001257376.1:p.Val187Glu
NM_001270448.1:c.263T>A NP_001257377.1:p.Val88Glu
XM_006721516.2:c.491T>A XP_006721579.2:p.Val164Glu
XM_011523829.1:c.491T>A XP_011522131.1:p.Val164Glu
XM_011523830.1:c.491T>A XP_011522132.1:p.Val164Glu
XR_934021.1:n.598T>A
XR_934022.1:n.598T>A
XR_934023.1:n.598T>A
XM_006721516.3:c.491T>A XP_006721579.2:p.Val164Glu
XM_011523829.2:c.491T>A XP_011522131.1:p.Val164Glu
XM_011523830.2:c.491T>A XP_011522132.1:p.Val164Glu
XM_024450741.1:c.491T>A XP_024306509.1:p.Val164Glu
XR_934021.2:n.550T>A
XR_934022.2:n.550T>A
XR_934023.2:n.550T>A
NM_000018.4:c.491T>A MANE Select NP_000009.1:p.Val164Glu
NM_001033859.3:c.425T>A NP_001029031.1:p.Val142Glu
NM_001270447.2:c.560T>A NP_001257376.1:p.Val187Glu
NM_001270448.2:c.263T>A NP_001257377.1:p.Val88Glu