Canonical Allele Identifier: CA397724851
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1484294
ClinVar RCV Id: RCV002038041
dbSNP Id: rs533055438

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223859G>C , CM000679.2:g.7223859G>C GRCh38
NC_000017.10:g.7127178G>C , CM000679.1:g.7127178G>C GRCh37
NC_000017.9:g.7067902G>C NCBI36
NG_007975.1:g.9026G>C
NG_008391.2:g.1192C>G
NG_033038.1:g.15686C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1316G>C MANE Select ENSP00000349297.5:p.Gly439Ala
ENST00000322910.9:c.*1271G>C ENSP00000325395.5:n.*1271G>C
ENST00000350303.9:c.1250G>C ENSP00000344152.5:p.Gly417Ala
ENST00000356839.9:c.1316G>C ENSP00000349297.5:p.Gly439Ala
ENST00000542255.6:c.174G>C
ENST00000543245.6:c.1385G>C ENSP00000438689.2:p.Gly462Ala
ENST00000578711.1:n.355G>C
ENST00000579425.5:n.340G>C
ENST00000579546.1:c.153G>C
ENST00000583074.5:n.35G>C
ENST00000583850.5:n.91G>C
ENST00000583858.5:c.345G>C
ENST00000585203.6:n.523+1G>C
NM_000018.3:c.1316G>C NP_000009.1:p.Gly439Ala
NM_001033859.2:c.1250G>C NP_001029031.1:p.Gly417Ala
NM_001270447.1:c.1385G>C NP_001257376.1:p.Gly462Ala
NM_001270448.1:c.1088G>C NP_001257377.1:p.Gly363Ala
XM_006721516.2:c.1316G>C XP_006721579.2:p.Gly439Ala
XM_011523829.1:c.1316G>C XP_011522131.1:p.Gly439Ala
XM_011523830.1:c.1316G>C XP_011522132.1:p.Gly439Ala
XR_934021.1:n.1423G>C
XR_934022.1:n.1423G>C
XR_934023.1:n.1423G>C
XM_006721516.3:c.1316G>C XP_006721579.2:p.Gly439Ala
XM_011523829.2:c.1316G>C XP_011522131.1:p.Gly439Ala
XM_011523830.2:c.1316G>C XP_011522132.1:p.Gly439Ala
XM_024450741.1:c.1316G>C XP_024306509.1:p.Gly439Ala
XR_934021.2:n.1375G>C
XR_934022.2:n.1375G>C
XR_934023.2:n.1375G>C
NM_000018.4:c.1316G>C MANE Select NP_000009.1:p.Gly439Ala
NM_001033859.3:c.1250G>C NP_001029031.1:p.Gly417Ala
NM_001270447.2:c.1385G>C NP_001257376.1:p.Gly462Ala
NM_001270448.2:c.1088G>C NP_001257377.1:p.Gly363Ala