Canonical Allele Identifier: CA397725379
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224349C>T , CM000679.2:g.7224349C>T GRCh38
NC_000017.10:g.7127668C>T , CM000679.1:g.7127668C>T GRCh37
NC_000017.9:g.7068392C>T NCBI36
NG_007975.1:g.9516C>T
NG_008391.2:g.702G>A
NG_033038.1:g.15196G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1561C>T MANE Select ENSP00000349297.5:p.Leu521Phe
ENST00000322910.9:c.*1516C>T ENSP00000325395.5:n.*1516C>T
ENST00000350303.9:c.1495C>T ENSP00000344152.5:p.Leu499Phe
ENST00000356839.9:c.1561C>T ENSP00000349297.5:p.Leu521Phe
ENST00000542255.6:c.419C>T
ENST00000543245.6:c.1630C>T ENSP00000438689.2:p.Leu544Phe
ENST00000578319.5:n.56C>T
ENST00000578711.1:n.845C>T
ENST00000578809.5:n.133C>T
ENST00000579391.1:n.169C>T
ENST00000579425.5:n.677C>T
ENST00000579546.1:c.300C>T
ENST00000579894.5:n.348C>T
ENST00000582450.1:n.69C>T
ENST00000583074.5:n.182C>T
ENST00000583850.5:n.336C>T
ENST00000583858.5:c.492C>T
ENST00000585203.6:n.752C>T
NM_000018.3:c.1561C>T NP_000009.1:p.Leu521Phe
NM_001033859.2:c.1495C>T NP_001029031.1:p.Leu499Phe
NM_001270447.1:c.1630C>T NP_001257376.1:p.Leu544Phe
NM_001270448.1:c.1333C>T NP_001257377.1:p.Leu445Phe
XM_006721516.2:c.1561C>T XP_006721579.2:p.Leu521Phe
XM_011523829.1:c.1463C>T XP_011522131.1:p.Ser488Phe
XM_011523830.1:c.1463C>T XP_011522132.1:p.Ser488Phe
XR_934021.1:n.1668C>T
XR_934022.1:n.1570C>T
XR_934023.1:n.1570C>T
XM_006721516.3:c.1561C>T XP_006721579.2:p.Leu521Phe
XM_011523829.2:c.1463C>T XP_011522131.1:p.Ser488Phe
XM_011523830.2:c.1463C>T XP_011522132.1:p.Ser488Phe
XM_024450741.1:c.1463C>T XP_024306509.1:p.Ser488Phe
XR_934021.2:n.1620C>T
XR_934022.2:n.1522C>T
XR_934023.2:n.1522C>T
NM_000018.4:c.1561C>T MANE Select NP_000009.1:p.Leu521Phe
NM_001033859.3:c.1495C>T NP_001029031.1:p.Leu499Phe
NM_001270447.2:c.1630C>T NP_001257376.1:p.Leu544Phe
NM_001270448.2:c.1333C>T NP_001257377.1:p.Leu445Phe