Canonical Allele Identifier: CA397724269
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932874
ClinVar RCV Id: RCV001200838
dbSNP Id: rs2071297089
gnomAD v3: 17-7222851-A-G
gnomAD v4: 17-7222851-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222851A>G , CM000679.2:g.7222851A>G GRCh38
NC_000017.10:g.7126170A>G , CM000679.1:g.7126170A>G GRCh37
NC_000017.9:g.7066894A>G NCBI36
NG_007975.1:g.8018A>G
NG_008391.2:g.2200T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1063A>G MANE Select ENSP00000349297.5:p.Ile355Val
ENST00000322910.9:c.*1018A>G ENSP00000325395.5:n.*1018A>G
ENST00000350303.9:c.997A>G ENSP00000344152.5:p.Ile333Val
ENST00000356839.9:c.1063A>G ENSP00000349297.5:p.Ile355Val
ENST00000543245.6:c.1132A>G ENSP00000438689.2:p.Ile378Val
ENST00000578824.5:n.212A>G
ENST00000582379.1:n.447A>G
ENST00000583858.5:c.92A>G
ENST00000585203.6:n.4A>G
NM_000018.3:c.1063A>G NP_000009.1:p.Ile355Val
NM_001033859.2:c.997A>G NP_001029031.1:p.Ile333Val
NM_001270447.1:c.1132A>G NP_001257376.1:p.Ile378Val
NM_001270448.1:c.835A>G NP_001257377.1:p.Ile279Val
XM_006721516.2:c.1063A>G XP_006721579.2:p.Ile355Val
XM_011523829.1:c.1063A>G XP_011522131.1:p.Ile355Val
XM_011523830.1:c.1063A>G XP_011522132.1:p.Ile355Val
XR_934021.1:n.1170A>G
XR_934022.1:n.1170A>G
XR_934023.1:n.1170A>G
XM_006721516.3:c.1063A>G XP_006721579.2:p.Ile355Val
XM_011523829.2:c.1063A>G XP_011522131.1:p.Ile355Val
XM_011523830.2:c.1063A>G XP_011522132.1:p.Ile355Val
XM_024450741.1:c.1063A>G XP_024306509.1:p.Ile355Val
XR_934021.2:n.1122A>G
XR_934022.2:n.1122A>G
XR_934023.2:n.1122A>G
NM_000018.4:c.1063A>G MANE Select NP_000009.1:p.Ile355Val
NM_001033859.3:c.997A>G NP_001029031.1:p.Ile333Val
NM_001270447.2:c.1132A>G NP_001257376.1:p.Ile378Val
NM_001270448.2:c.835A>G NP_001257377.1:p.Ile279Val