Canonical Allele Identifier: CA397725001
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224019G>T , CM000679.2:g.7224019G>T GRCh38
NC_000017.10:g.7127338G>T , CM000679.1:g.7127338G>T GRCh37
NC_000017.9:g.7068062G>T NCBI36
NG_007975.1:g.9186G>T
NG_008391.2:g.1032C>A
NG_033038.1:g.15526C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1384G>T MANE Select ENSP00000349297.5:p.Glu462Ter
ENST00000322910.9:c.*1339G>T ENSP00000325395.5:n.*1339G>T
ENST00000350303.9:c.1318G>T ENSP00000344152.5:p.Glu440Ter
ENST00000356839.9:c.1384G>T ENSP00000349297.5:p.Glu462Ter
ENST00000542255.6:c.242G>T
ENST00000543245.6:c.1453G>T ENSP00000438689.2:p.Glu485Ter
ENST00000578711.1:n.515G>T
ENST00000579425.5:n.500G>T
ENST00000579546.1:c.221G>T
ENST00000579894.5:n.95G>T
ENST00000583074.5:n.103G>T
ENST00000583850.5:n.159G>T
ENST00000583858.5:c.413G>T
ENST00000585203.6:n.575G>T
NM_000018.3:c.1384G>T NP_000009.1:p.Glu462Ter
NM_001033859.2:c.1318G>T NP_001029031.1:p.Glu440Ter
NM_001270447.1:c.1453G>T NP_001257376.1:p.Glu485Ter
NM_001270448.1:c.1156G>T NP_001257377.1:p.Glu386Ter
XM_006721516.2:c.1384G>T XP_006721579.2:p.Glu462Ter
XM_011523829.1:c.1384G>T XP_011522131.1:p.Glu462Ter
XM_011523830.1:c.1384G>T XP_011522132.1:p.Glu462Ter
XR_934021.1:n.1491G>T
XR_934022.1:n.1491G>T
XR_934023.1:n.1491G>T
XM_006721516.3:c.1384G>T XP_006721579.2:p.Glu462Ter
XM_011523829.2:c.1384G>T XP_011522131.1:p.Glu462Ter
XM_011523830.2:c.1384G>T XP_011522132.1:p.Glu462Ter
XM_024450741.1:c.1384G>T XP_024306509.1:p.Glu462Ter
XR_934021.2:n.1443G>T
XR_934022.2:n.1443G>T
XR_934023.2:n.1443G>T
NM_000018.4:c.1384G>T MANE Select NP_000009.1:p.Glu462Ter
NM_001033859.3:c.1318G>T NP_001029031.1:p.Glu440Ter
NM_001270447.2:c.1453G>T NP_001257376.1:p.Glu485Ter
NM_001270448.2:c.1156G>T NP_001257377.1:p.Glu386Ter