Canonical Allele Identifier: CA397725312
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224240G>A , CM000679.2:g.7224240G>A GRCh38
NC_000017.10:g.7127559G>A , CM000679.1:g.7127559G>A GRCh37
NC_000017.9:g.7068283G>A NCBI36
NG_007975.1:g.9407G>A
NG_008391.2:g.811C>T
NG_033038.1:g.15305C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1529G>A MANE Select ENSP00000349297.5:p.Arg510Lys
ENST00000322910.9:c.*1484G>A ENSP00000325395.5:n.*1484G>A
ENST00000350303.9:c.1463G>A ENSP00000344152.5:p.Arg488Lys
ENST00000356839.9:c.1529G>A ENSP00000349297.5:p.Arg510Lys
ENST00000542255.6:c.387G>A
ENST00000543245.6:c.1598G>A ENSP00000438689.2:p.Arg533Lys
ENST00000578319.5:n.24G>A
ENST00000578711.1:n.736G>A
ENST00000578809.5:n.24G>A
ENST00000579391.1:n.137G>A
ENST00000579425.5:n.645G>A
ENST00000579546.1:c.272-81G>A
ENST00000579894.5:n.316G>A
ENST00000583074.5:n.154-81G>A
ENST00000583850.5:n.304G>A
ENST00000583858.5:c.464-81G>A
ENST00000585203.6:n.720G>A
NM_000018.3:c.1529G>A NP_000009.1:p.Arg510Lys
NM_001033859.2:c.1463G>A NP_001029031.1:p.Arg488Lys
NM_001270447.1:c.1598G>A NP_001257376.1:p.Arg533Lys
NM_001270448.1:c.1301G>A NP_001257377.1:p.Arg434Lys
XM_006721516.2:c.1529G>A XP_006721579.2:p.Arg510Lys
XM_011523829.1:c.1435-81G>A XP_011522131.1:n.1435-81G>A
XM_011523830.1:c.1435-81G>A XP_011522132.1:n.1435-81G>A
XR_934021.1:n.1636G>A
XR_934022.1:n.1542-81G>A
XR_934023.1:n.1542-81G>A
XM_006721516.3:c.1529G>A XP_006721579.2:p.Arg510Lys
XM_011523829.2:c.1435-81G>A XP_011522131.1:n.1435-81G>A
XM_011523830.2:c.1435-81G>A XP_011522132.1:n.1435-81G>A
XM_024450741.1:c.1435-81G>A XP_024306509.1:n.1435-81G>A
XR_934021.2:n.1588G>A
XR_934022.2:n.1494-81G>A
XR_934023.2:n.1494-81G>A
NM_000018.4:c.1529G>A MANE Select NP_000009.1:p.Arg510Lys
NM_001033859.3:c.1463G>A NP_001029031.1:p.Arg488Lys
NM_001270447.2:c.1598G>A NP_001257376.1:p.Arg533Lys
NM_001270448.2:c.1301G>A NP_001257377.1:p.Arg434Lys