Canonical Allele Identifier: CA397725378
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1561C>G MANE Select ENSP00000349297.5:p.Leu521Val
ENST00000322910.9:c.*1516C>G ENSP00000325395.5:n.*1516C>G
ENST00000350303.9:c.1495C>G ENSP00000344152.5:p.Leu499Val
ENST00000356839.9:c.1561C>G ENSP00000349297.5:p.Leu521Val
ENST00000542255.6:c.419C>G
ENST00000543245.6:c.1630C>G ENSP00000438689.2:p.Leu544Val
ENST00000578319.5:n.56C>G
ENST00000578711.1:n.845C>G
ENST00000578809.5:n.133C>G
ENST00000579391.1:n.169C>G
ENST00000579425.5:n.677C>G
ENST00000579546.1:c.300C>G
ENST00000579894.5:n.348C>G
ENST00000582450.1:n.69C>G
ENST00000583074.5:n.182C>G
ENST00000583850.5:n.336C>G
ENST00000583858.5:c.492C>G
ENST00000585203.6:n.752C>G
NM_000018.3:c.1561C>G NP_000009.1:p.Leu521Val
NM_001033859.2:c.1495C>G NP_001029031.1:p.Leu499Val
NM_001270447.1:c.1630C>G NP_001257376.1:p.Leu544Val
NM_001270448.1:c.1333C>G NP_001257377.1:p.Leu445Val
XM_006721516.2:c.1561C>G XP_006721579.2:p.Leu521Val
XM_011523829.1:c.1463C>G XP_011522131.1:p.Ser488Cys
XM_011523830.1:c.1463C>G XP_011522132.1:p.Ser488Cys
XR_934021.1:n.1668C>G
XR_934022.1:n.1570C>G
XR_934023.1:n.1570C>G
XM_006721516.3:c.1561C>G XP_006721579.2:p.Leu521Val
XM_011523829.2:c.1463C>G XP_011522131.1:p.Ser488Cys
XM_011523830.2:c.1463C>G XP_011522132.1:p.Ser488Cys
XM_024450741.1:c.1463C>G XP_024306509.1:p.Ser488Cys
XR_934021.2:n.1620C>G
XR_934022.2:n.1522C>G
XR_934023.2:n.1522C>G
NM_000018.4:c.1561C>G MANE Select NP_000009.1:p.Leu521Val
NM_001033859.3:c.1495C>G NP_001029031.1:p.Leu499Val
NM_001270447.2:c.1630C>G NP_001257376.1:p.Leu544Val
NM_001270448.2:c.1333C>G NP_001257377.1:p.Leu445Val