Canonical Allele Identifier: CA397725314
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1529G>C MANE Select ENSP00000349297.5:p.Arg510Thr
ENST00000322910.9:c.*1484G>C ENSP00000325395.5:n.*1484G>C
ENST00000350303.9:c.1463G>C ENSP00000344152.5:p.Arg488Thr
ENST00000356839.9:c.1529G>C ENSP00000349297.5:p.Arg510Thr
ENST00000542255.6:c.387G>C
ENST00000543245.6:c.1598G>C ENSP00000438689.2:p.Arg533Thr
ENST00000578319.5:n.24G>C
ENST00000578711.1:n.736G>C
ENST00000578809.5:n.24G>C
ENST00000579391.1:n.137G>C
ENST00000579425.5:n.645G>C
ENST00000579546.1:c.272-81G>C
ENST00000579894.5:n.316G>C
ENST00000583074.5:n.154-81G>C
ENST00000583850.5:n.304G>C
ENST00000583858.5:c.464-81G>C
ENST00000585203.6:n.720G>C
NM_000018.3:c.1529G>C NP_000009.1:p.Arg510Thr
NM_001033859.2:c.1463G>C NP_001029031.1:p.Arg488Thr
NM_001270447.1:c.1598G>C NP_001257376.1:p.Arg533Thr
NM_001270448.1:c.1301G>C NP_001257377.1:p.Arg434Thr
XM_006721516.2:c.1529G>C XP_006721579.2:p.Arg510Thr
XM_011523829.1:c.1435-81G>C XP_011522131.1:n.1435-81G>C
XM_011523830.1:c.1435-81G>C XP_011522132.1:n.1435-81G>C
XR_934021.1:n.1636G>C
XR_934022.1:n.1542-81G>C
XR_934023.1:n.1542-81G>C
XM_006721516.3:c.1529G>C XP_006721579.2:p.Arg510Thr
XM_011523829.2:c.1435-81G>C XP_011522131.1:n.1435-81G>C
XM_011523830.2:c.1435-81G>C XP_011522132.1:n.1435-81G>C
XM_024450741.1:c.1435-81G>C XP_024306509.1:n.1435-81G>C
XR_934021.2:n.1588G>C
XR_934022.2:n.1494-81G>C
XR_934023.2:n.1494-81G>C
NM_000018.4:c.1529G>C MANE Select NP_000009.1:p.Arg510Thr
NM_001033859.3:c.1463G>C NP_001029031.1:p.Arg488Thr
NM_001270447.2:c.1598G>C NP_001257376.1:p.Arg533Thr
NM_001270448.2:c.1301G>C NP_001257377.1:p.Arg434Thr