Canonical Allele Identifier: CA397725305
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224236C>A , CM000679.2:g.7224236C>A GRCh38
NC_000017.10:g.7127555C>A , CM000679.1:g.7127555C>A GRCh37
NC_000017.9:g.7068279C>A NCBI36
NG_007975.1:g.9403C>A
NG_008391.2:g.815G>T
NG_033038.1:g.15309G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1525C>A MANE Select ENSP00000349297.5:p.Leu509Met
ENST00000322910.9:c.*1480C>A ENSP00000325395.5:n.*1480C>A
ENST00000350303.9:c.1459C>A ENSP00000344152.5:p.Leu487Met
ENST00000356839.9:c.1525C>A ENSP00000349297.5:p.Leu509Met
ENST00000542255.6:c.383C>A
ENST00000543245.6:c.1594C>A ENSP00000438689.2:p.Leu532Met
ENST00000578319.5:n.20C>A
ENST00000578711.1:n.732C>A
ENST00000578809.5:n.20C>A
ENST00000579391.1:n.133C>A
ENST00000579425.5:n.641C>A
ENST00000579546.1:c.272-85C>A
ENST00000579894.5:n.312C>A
ENST00000583074.5:n.154-85C>A
ENST00000583850.5:n.300C>A
ENST00000583858.5:c.464-85C>A
ENST00000585203.6:n.716C>A
NM_000018.3:c.1525C>A NP_000009.1:p.Leu509Met
NM_001033859.2:c.1459C>A NP_001029031.1:p.Leu487Met
NM_001270447.1:c.1594C>A NP_001257376.1:p.Leu532Met
NM_001270448.1:c.1297C>A NP_001257377.1:p.Leu433Met
XM_006721516.2:c.1525C>A XP_006721579.2:p.Leu509Met
XM_011523829.1:c.1435-85C>A XP_011522131.1:n.1435-85C>A
XM_011523830.1:c.1435-85C>A XP_011522132.1:n.1435-85C>A
XR_934021.1:n.1632C>A
XR_934022.1:n.1542-85C>A
XR_934023.1:n.1542-85C>A
XM_006721516.3:c.1525C>A XP_006721579.2:p.Leu509Met
XM_011523829.2:c.1435-85C>A XP_011522131.1:n.1435-85C>A
XM_011523830.2:c.1435-85C>A XP_011522132.1:n.1435-85C>A
XM_024450741.1:c.1435-85C>A XP_024306509.1:n.1435-85C>A
XR_934021.2:n.1584C>A
XR_934022.2:n.1494-85C>A
XR_934023.2:n.1494-85C>A
NM_000018.4:c.1525C>A MANE Select NP_000009.1:p.Leu509Met
NM_001033859.3:c.1459C>A NP_001029031.1:p.Leu487Met
NM_001270447.2:c.1594C>A NP_001257376.1:p.Leu532Met
NM_001270448.2:c.1297C>A NP_001257377.1:p.Leu433Met