Canonical Allele Identifier: CA397722820
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 558732
ClinVar RCV Id: RCV000675043
dbSNP Id: rs1555527907

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220979G>A , CM000679.2:g.7220979G>A GRCh38
NC_000017.10:g.7124298G>A , CM000679.1:g.7124298G>A GRCh37
NC_000017.9:g.7065022G>A NCBI36
NG_007975.1:g.6146G>A
NG_008391.2:g.4072C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.398G>A MANE Select ENSP00000349297.5:p.Trp133Ter
ENST00000322910.9:c.*353G>A ENSP00000325395.5:n.*353G>A
ENST00000350303.9:c.332G>A ENSP00000344152.5:p.Trp111Ter
ENST00000356839.9:c.398G>A ENSP00000349297.5:p.Trp133Ter
ENST00000543245.6:c.467G>A ENSP00000438689.2:p.Trp156Ter
ENST00000577191.5:n.475G>A
ENST00000577433.5:n.606G>A
ENST00000577857.5:n.293+149G>A
ENST00000579286.5:n.579G>A
ENST00000579886.2:c.236G>A ENSP00000463246.1:p.Trp79Ter
ENST00000580365.1:n.129G>A
ENST00000581378.5:c.97G>A
ENST00000581562.5:n.445G>A
ENST00000582056.5:n.581G>A
ENST00000582166.1:n.379G>A
ENST00000583312.5:c.398G>A ENSP00000467920.1:p.Trp133Ter
ENST00000584103.5:c.431G>A ENSP00000465353.1:p.Trp144Ter
NM_000018.3:c.398G>A NP_000009.1:p.Trp133Ter
NM_001033859.2:c.332G>A NP_001029031.1:p.Trp111Ter
NM_001270447.1:c.467G>A NP_001257376.1:p.Trp156Ter
NM_001270448.1:c.170G>A NP_001257377.1:p.Trp57Ter
XM_006721516.2:c.398G>A XP_006721579.2:p.Trp133Ter
XM_011523829.1:c.398G>A XP_011522131.1:p.Trp133Ter
XM_011523830.1:c.398G>A XP_011522132.1:p.Trp133Ter
XR_934021.1:n.505G>A
XR_934022.1:n.505G>A
XR_934023.1:n.505G>A
XM_006721516.3:c.398G>A XP_006721579.2:p.Trp133Ter
XM_011523829.2:c.398G>A XP_011522131.1:p.Trp133Ter
XM_011523830.2:c.398G>A XP_011522132.1:p.Trp133Ter
XM_024450741.1:c.398G>A XP_024306509.1:p.Trp133Ter
XR_934021.2:n.457G>A
XR_934022.2:n.457G>A
XR_934023.2:n.457G>A
NM_000018.4:c.398G>A MANE Select NP_000009.1:p.Trp133Ter
NM_001033859.3:c.332G>A NP_001029031.1:p.Trp111Ter
NM_001270447.2:c.467G>A NP_001257376.1:p.Trp156Ter
NM_001270448.2:c.170G>A NP_001257377.1:p.Trp57Ter