Canonical Allele Identifier: CA8338089
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 374123
ClinVar RCV Id: RCV000415274
dbSNP Id: rs138058572

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223993G>A , CM000679.2:g.7223993G>A GRCh38
NC_000017.10:g.7127312G>A , CM000679.1:g.7127312G>A GRCh37
NC_000017.9:g.7068036G>A NCBI36
NG_007975.1:g.9160G>A
NG_008391.2:g.1058C>T
NG_033038.1:g.15552C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1358G>A MANE Select ENSP00000349297.5:p.Arg453Gln
ENST00000322910.9:c.*1313G>A ENSP00000325395.5:p.=
ENST00000350303.9:c.1292G>A ENSP00000344152.5:p.Arg431Gln
ENST00000356839.9:c.1358G>A ENSP00000349297.5:p.Arg453Gln
ENST00000542255.6:n.216G>A
ENST00000543245.6:c.1427G>A ENSP00000438689.2:p.Arg476Gln
ENST00000578711.1:n.489G>A
ENST00000579425.5:n.474G>A
ENST00000579546.1:n.195G>A
ENST00000579894.5:n.69G>A
ENST00000583074.5:n.77G>A
ENST00000583850.5:n.133G>A
ENST00000583858.5:n.387G>A
ENST00000585203.6:n.549G>A
NM_000018.3:c.1358G>A NP_000009.1:p.Arg453Gln
NM_001033859.2:c.1292G>A NP_001029031.1:p.Arg431Gln
NM_001270447.1:c.1427G>A NP_001257376.1:p.Arg476Gln
NM_001270448.1:c.1130G>A NP_001257377.1:p.Arg377Gln
XM_006721516.2:c.1358G>A XP_006721579.2:p.Arg453Gln
XM_011523829.1:c.1358G>A XP_011522131.1:p.Arg453Gln
XM_011523830.1:c.1358G>A XP_011522132.1:p.Arg453Gln
XR_934021.1:n.1465G>A
XR_934022.1:n.1465G>A
XR_934023.1:n.1465G>A
XM_006721516.3:c.1358G>A XP_006721579.2:p.Arg453Gln
XM_011523829.2:c.1358G>A XP_011522131.1:p.Arg453Gln
XM_011523830.2:c.1358G>A XP_011522132.1:p.Arg453Gln
XM_024450741.1:c.1358G>A XP_024306509.1:p.Arg453Gln
XR_934021.2:n.1417G>A
XR_934022.2:n.1417G>A
XR_934023.2:n.1417G>A
NM_000018.4:c.1358G>A MANE Select NP_000009.1:p.Arg453Gln
NM_001033859.3:c.1292G>A NP_001029031.1:p.Arg431Gln
NM_001270447.2:c.1427G>A NP_001257376.1:p.Arg476Gln
NM_001270448.2:c.1130G>A NP_001257377.1:p.Arg377Gln