Canonical Allele Identifier: CA397724799
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 660424
ClinVar RCV Id: RCV000817615
dbSNP Id: rs1597534677

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223837G>T , CM000679.2:g.7223837G>T GRCh38
NC_000017.10:g.7127156G>T , CM000679.1:g.7127156G>T GRCh37
NC_000017.9:g.7067880G>T NCBI36
NG_007975.1:g.9004G>T
NG_008391.2:g.1214C>A
NG_033038.1:g.15708C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1294G>T MANE Select ENSP00000349297.5:p.Glu432Ter
ENST00000322910.9:c.*1249G>T ENSP00000325395.5:n.*1249G>T
ENST00000350303.9:c.1228G>T ENSP00000344152.5:p.Glu410Ter
ENST00000356839.9:c.1294G>T ENSP00000349297.5:p.Glu432Ter
ENST00000542255.6:c.152G>T
ENST00000543245.6:c.1363G>T ENSP00000438689.2:p.Glu455Ter
ENST00000578711.1:n.333G>T
ENST00000578824.5:n.710G>T
ENST00000579425.5:n.318G>T
ENST00000579546.1:c.131G>T
ENST00000583074.5:n.13G>T
ENST00000583850.5:n.69G>T
ENST00000583858.5:c.323G>T
ENST00000585203.6:n.502G>T
NM_000018.3:c.1294G>T NP_000009.1:p.Glu432Ter
NM_001033859.2:c.1228G>T NP_001029031.1:p.Glu410Ter
NM_001270447.1:c.1363G>T NP_001257376.1:p.Glu455Ter
NM_001270448.1:c.1066G>T NP_001257377.1:p.Glu356Ter
XM_006721516.2:c.1294G>T XP_006721579.2:p.Glu432Ter
XM_011523829.1:c.1294G>T XP_011522131.1:p.Glu432Ter
XM_011523830.1:c.1294G>T XP_011522132.1:p.Glu432Ter
XR_934021.1:n.1401G>T
XR_934022.1:n.1401G>T
XR_934023.1:n.1401G>T
XM_006721516.3:c.1294G>T XP_006721579.2:p.Glu432Ter
XM_011523829.2:c.1294G>T XP_011522131.1:p.Glu432Ter
XM_011523830.2:c.1294G>T XP_011522132.1:p.Glu432Ter
XM_024450741.1:c.1294G>T XP_024306509.1:p.Glu432Ter
XR_934021.2:n.1353G>T
XR_934022.2:n.1353G>T
XR_934023.2:n.1353G>T
NM_000018.4:c.1294G>T MANE Select NP_000009.1:p.Glu432Ter
NM_001033859.3:c.1228G>T NP_001029031.1:p.Glu410Ter
NM_001270447.2:c.1363G>T NP_001257376.1:p.Glu455Ter
NM_001270448.2:c.1066G>T NP_001257377.1:p.Glu356Ter