Canonical Allele Identifier: CA397725366
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224344T>A , CM000679.2:g.7224344T>A GRCh38
NC_000017.10:g.7127663T>A , CM000679.1:g.7127663T>A GRCh37
NC_000017.9:g.7068387T>A NCBI36
NG_007975.1:g.9511T>A
NG_008391.2:g.707A>T
NG_033038.1:g.15201A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1556T>A MANE Select ENSP00000349297.5:p.Leu519Gln
ENST00000322910.9:c.*1511T>A ENSP00000325395.5:n.*1511T>A
ENST00000350303.9:c.1490T>A ENSP00000344152.5:p.Leu497Gln
ENST00000356839.9:c.1556T>A ENSP00000349297.5:p.Leu519Gln
ENST00000542255.6:c.414T>A
ENST00000543245.6:c.1625T>A ENSP00000438689.2:p.Leu542Gln
ENST00000578319.5:n.51T>A
ENST00000578711.1:n.840T>A
ENST00000578809.5:n.128T>A
ENST00000579391.1:n.164T>A
ENST00000579425.5:n.672T>A
ENST00000579546.1:c.295T>A
ENST00000579894.5:n.343T>A
ENST00000582450.1:n.64T>A
ENST00000583074.5:n.177T>A
ENST00000583850.5:n.331T>A
ENST00000583858.5:c.487T>A
ENST00000585203.6:n.747T>A
NM_000018.3:c.1556T>A NP_000009.1:p.Leu519Gln
NM_001033859.2:c.1490T>A NP_001029031.1:p.Leu497Gln
NM_001270447.1:c.1625T>A NP_001257376.1:p.Leu542Gln
NM_001270448.1:c.1328T>A NP_001257377.1:p.Leu443Gln
XM_006721516.2:c.1556T>A XP_006721579.2:p.Leu519Gln
XM_011523829.1:c.1458T>A XP_011522131.1:p.Pro486=
XM_011523830.1:c.1458T>A XP_011522132.1:p.Pro486=
XR_934021.1:n.1663T>A
XR_934022.1:n.1565T>A
XR_934023.1:n.1565T>A
XM_006721516.3:c.1556T>A XP_006721579.2:p.Leu519Gln
XM_011523829.2:c.1458T>A XP_011522131.1:p.Pro486=
XM_011523830.2:c.1458T>A XP_011522132.1:p.Pro486=
XM_024450741.1:c.1458T>A XP_024306509.1:p.Pro486=
XR_934021.2:n.1615T>A
XR_934022.2:n.1517T>A
XR_934023.2:n.1517T>A
NM_000018.4:c.1556T>A MANE Select NP_000009.1:p.Leu519Gln
NM_001033859.3:c.1490T>A NP_001029031.1:p.Leu497Gln
NM_001270447.2:c.1625T>A NP_001257376.1:p.Leu542Gln
NM_001270448.2:c.1328T>A NP_001257377.1:p.Leu443Gln