Canonical Allele Identifier: CA397725365
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224343C>A , CM000679.2:g.7224343C>A GRCh38
NC_000017.10:g.7127662C>A , CM000679.1:g.7127662C>A GRCh37
NC_000017.9:g.7068386C>A NCBI36
NG_007975.1:g.9510C>A
NG_008391.2:g.708G>T
NG_033038.1:g.15202G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1555C>A MANE Select ENSP00000349297.5:p.Leu519Met
ENST00000322910.9:c.*1510C>A ENSP00000325395.5:n.*1510C>A
ENST00000350303.9:c.1489C>A ENSP00000344152.5:p.Leu497Met
ENST00000356839.9:c.1555C>A ENSP00000349297.5:p.Leu519Met
ENST00000542255.6:c.413C>A
ENST00000543245.6:c.1624C>A ENSP00000438689.2:p.Leu542Met
ENST00000578319.5:n.50C>A
ENST00000578711.1:n.839C>A
ENST00000578809.5:n.127C>A
ENST00000579391.1:n.163C>A
ENST00000579425.5:n.671C>A
ENST00000579546.1:c.294C>A
ENST00000579894.5:n.342C>A
ENST00000582450.1:n.63C>A
ENST00000583074.5:n.176C>A
ENST00000583850.5:n.330C>A
ENST00000583858.5:c.486C>A
ENST00000585203.6:n.746C>A
NM_000018.3:c.1555C>A NP_000009.1:p.Leu519Met
NM_001033859.2:c.1489C>A NP_001029031.1:p.Leu497Met
NM_001270447.1:c.1624C>A NP_001257376.1:p.Leu542Met
NM_001270448.1:c.1327C>A NP_001257377.1:p.Leu443Met
XM_006721516.2:c.1555C>A XP_006721579.2:p.Leu519Met
XM_011523829.1:c.1457C>A XP_011522131.1:p.Pro486His
XM_011523830.1:c.1457C>A XP_011522132.1:p.Pro486His
XR_934021.1:n.1662C>A
XR_934022.1:n.1564C>A
XR_934023.1:n.1564C>A
XM_006721516.3:c.1555C>A XP_006721579.2:p.Leu519Met
XM_011523829.2:c.1457C>A XP_011522131.1:p.Pro486His
XM_011523830.2:c.1457C>A XP_011522132.1:p.Pro486His
XM_024450741.1:c.1457C>A XP_024306509.1:p.Pro486His
XR_934021.2:n.1614C>A
XR_934022.2:n.1516C>A
XR_934023.2:n.1516C>A
NM_000018.4:c.1555C>A MANE Select NP_000009.1:p.Leu519Met
NM_001033859.3:c.1489C>A NP_001029031.1:p.Leu497Met
NM_001270447.2:c.1624C>A NP_001257376.1:p.Leu542Met
NM_001270448.2:c.1327C>A NP_001257377.1:p.Leu443Met