Canonical Allele Identifier: CA397725665
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224651T>A , CM000679.2:g.7224651T>A GRCh38
NC_000017.10:g.7127970T>A , CM000679.1:g.7127970T>A GRCh37
NC_000017.9:g.7068694T>A NCBI36
NG_007975.1:g.9818T>A
NG_008391.2:g.400A>T
NG_033038.1:g.14894A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1688T>A MANE Select ENSP00000349297.5:p.Phe563Tyr
ENST00000322910.9:c.*1643T>A ENSP00000325395.5:n.*1643T>A
ENST00000350303.9:c.1622T>A ENSP00000344152.5:p.Phe541Tyr
ENST00000356839.9:c.1688T>A ENSP00000349297.5:p.Phe563Tyr
ENST00000542255.6:c.537-64T>A
ENST00000543245.6:c.1757T>A ENSP00000438689.2:p.Phe586Tyr
ENST00000578033.1:n.19T>A
ENST00000578319.5:n.269T>A
ENST00000578711.1:n.1147T>A
ENST00000578809.5:n.260T>A
ENST00000579425.5:n.804T>A
ENST00000579546.1:c.423T>A
ENST00000582450.1:n.285T>A
ENST00000583074.5:n.300-64T>A
ENST00000583848.5:c.65-11T>A ENSP00000466487.1:n.65-11T>A
ENST00000583850.5:n.459T>A
ENST00000583858.5:c.619T>A
ENST00000585203.6:n.879T>A
NM_000018.3:c.1688T>A NP_000009.1:p.Phe563Tyr
NM_001033859.2:c.1622T>A NP_001029031.1:p.Phe541Tyr
NM_001270447.1:c.1757T>A NP_001257376.1:p.Phe586Tyr
NM_001270448.1:c.1460T>A NP_001257377.1:p.Phe487Tyr
XM_006721516.2:c.1679-64T>A XP_006721579.2:n.1679-64T>A
XM_011523829.1:c.1577-64T>A XP_011522131.1:n.1577-64T>A
XM_011523830.1:c.1586T>A XP_011522132.1:p.Phe529Tyr
XR_934021.1:n.1791T>A
XR_934022.1:n.1697T>A
XR_934023.1:n.1688-64T>A
XM_006721516.3:c.1679-64T>A XP_006721579.2:n.1679-64T>A
XM_011523829.2:c.1577-64T>A XP_011522131.1:n.1577-64T>A
XM_011523830.2:c.1586T>A XP_011522132.1:p.Phe529Tyr
XM_024450741.1:c.1676T>A XP_024306509.1:p.Phe559Tyr
XR_934021.2:n.1743T>A
XR_934022.2:n.1649T>A
XR_934023.2:n.1640-64T>A
NM_000018.4:c.1688T>A MANE Select NP_000009.1:p.Phe563Tyr
NM_001033859.3:c.1622T>A NP_001029031.1:p.Phe541Tyr
NM_001270447.2:c.1757T>A NP_001257376.1:p.Phe586Tyr
NM_001270448.2:c.1460T>A NP_001257377.1:p.Phe487Tyr