Canonical Allele Identifier: CA397724847
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223856G>T , CM000679.2:g.7223856G>T GRCh38
NC_000017.10:g.7127175G>T , CM000679.1:g.7127175G>T GRCh37
NC_000017.9:g.7067899G>T NCBI36
NG_007975.1:g.9023G>T
NG_008391.2:g.1195C>A
NG_033038.1:g.15689C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1313G>T MANE Select ENSP00000349297.5:p.Gly438Val
ENST00000322910.9:c.*1268G>T ENSP00000325395.5:n.*1268G>T
ENST00000350303.9:c.1247G>T ENSP00000344152.5:p.Gly416Val
ENST00000356839.9:c.1313G>T ENSP00000349297.5:p.Gly438Val
ENST00000542255.6:c.171G>T
ENST00000543245.6:c.1382G>T ENSP00000438689.2:p.Gly461Val
ENST00000578711.1:n.352G>T
ENST00000579425.5:n.337G>T
ENST00000579546.1:c.150G>T
ENST00000583074.5:n.32G>T
ENST00000583850.5:n.88G>T
ENST00000583858.5:c.342G>T
ENST00000585203.6:n.521G>T
NM_000018.3:c.1313G>T NP_000009.1:p.Gly438Val
NM_001033859.2:c.1247G>T NP_001029031.1:p.Gly416Val
NM_001270447.1:c.1382G>T NP_001257376.1:p.Gly461Val
NM_001270448.1:c.1085G>T NP_001257377.1:p.Gly362Val
XM_006721516.2:c.1313G>T XP_006721579.2:p.Gly438Val
XM_011523829.1:c.1313G>T XP_011522131.1:p.Gly438Val
XM_011523830.1:c.1313G>T XP_011522132.1:p.Gly438Val
XR_934021.1:n.1420G>T
XR_934022.1:n.1420G>T
XR_934023.1:n.1420G>T
XM_006721516.3:c.1313G>T XP_006721579.2:p.Gly438Val
XM_011523829.2:c.1313G>T XP_011522131.1:p.Gly438Val
XM_011523830.2:c.1313G>T XP_011522132.1:p.Gly438Val
XM_024450741.1:c.1313G>T XP_024306509.1:p.Gly438Val
XR_934021.2:n.1372G>T
XR_934022.2:n.1372G>T
XR_934023.2:n.1372G>T
NM_000018.4:c.1313G>T MANE Select NP_000009.1:p.Gly438Val
NM_001033859.3:c.1247G>T NP_001029031.1:p.Gly416Val
NM_001270447.2:c.1382G>T NP_001257376.1:p.Gly461Val
NM_001270448.2:c.1085G>T NP_001257377.1:p.Gly362Val