Canonical Allele Identifier: CA8338090
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932770
ClinVar RCV Id: RCV001200711
dbSNP Id: rs755432945
gnomAD v2: 17-7127336-T-C
gnomAD v4: 17-7224017-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224017T>C , CM000679.2:g.7224017T>C GRCh38
NC_000017.10:g.7127336T>C , CM000679.1:g.7127336T>C GRCh37
NC_000017.9:g.7068060T>C NCBI36
NG_007975.1:g.9184T>C
NG_008391.2:g.1034A>G
NG_033038.1:g.15528A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1382T>C MANE Select ENSP00000349297.5:p.Phe461Ser
ENST00000322910.9:c.*1337T>C ENSP00000325395.5:n.*1337T>C
ENST00000350303.9:c.1316T>C ENSP00000344152.5:p.Phe439Ser
ENST00000356839.9:c.1382T>C ENSP00000349297.5:p.Phe461Ser
ENST00000542255.6:c.240T>C
ENST00000543245.6:c.1451T>C ENSP00000438689.2:p.Phe484Ser
ENST00000578711.1:n.513T>C
ENST00000579425.5:n.498T>C
ENST00000579546.1:c.219T>C
ENST00000579894.5:n.93T>C
ENST00000583074.5:n.101T>C
ENST00000583850.5:n.157T>C
ENST00000583858.5:c.411T>C
ENST00000585203.6:n.573T>C
NM_000018.3:c.1382T>C NP_000009.1:p.Phe461Ser
NM_001033859.2:c.1316T>C NP_001029031.1:p.Phe439Ser
NM_001270447.1:c.1451T>C NP_001257376.1:p.Phe484Ser
NM_001270448.1:c.1154T>C NP_001257377.1:p.Phe385Ser
XM_006721516.2:c.1382T>C XP_006721579.2:p.Phe461Ser
XM_011523829.1:c.1382T>C XP_011522131.1:p.Phe461Ser
XM_011523830.1:c.1382T>C XP_011522132.1:p.Phe461Ser
XR_934021.1:n.1489T>C
XR_934022.1:n.1489T>C
XR_934023.1:n.1489T>C
XM_006721516.3:c.1382T>C XP_006721579.2:p.Phe461Ser
XM_011523829.2:c.1382T>C XP_011522131.1:p.Phe461Ser
XM_011523830.2:c.1382T>C XP_011522132.1:p.Phe461Ser
XM_024450741.1:c.1382T>C XP_024306509.1:p.Phe461Ser
XR_934021.2:n.1441T>C
XR_934022.2:n.1441T>C
XR_934023.2:n.1441T>C
NM_000018.4:c.1382T>C MANE Select NP_000009.1:p.Phe461Ser
NM_001033859.3:c.1316T>C NP_001029031.1:p.Phe439Ser
NM_001270447.2:c.1451T>C NP_001257376.1:p.Phe484Ser
NM_001270448.2:c.1154T>C NP_001257377.1:p.Phe385Ser