Canonical Allele Identifier: CA397725276
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224223G>C , CM000679.2:g.7224223G>C GRCh38
NC_000017.10:g.7127542G>C , CM000679.1:g.7127542G>C GRCh37
NC_000017.9:g.7068266G>C NCBI36
NG_007975.1:g.9390G>C
NG_008391.2:g.828C>G
NG_033038.1:g.15322C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1512G>C MANE Select ENSP00000349297.5:p.Glu504Asp
ENST00000322910.9:c.*1467G>C ENSP00000325395.5:n.*1467G>C
ENST00000350303.9:c.1446G>C ENSP00000344152.5:p.Glu482Asp
ENST00000356839.9:c.1512G>C ENSP00000349297.5:p.Glu504Asp
ENST00000542255.6:c.370G>C
ENST00000543245.6:c.1581G>C ENSP00000438689.2:p.Glu527Asp
ENST00000578319.5:n.7G>C
ENST00000578711.1:n.719G>C
ENST00000578809.5:n.7G>C
ENST00000579391.1:n.120G>C
ENST00000579425.5:n.628G>C
ENST00000579546.1:c.272-98G>C
ENST00000579894.5:n.299G>C
ENST00000583074.5:n.154-98G>C
ENST00000583850.5:n.287G>C
ENST00000583858.5:c.464-98G>C
ENST00000585203.6:n.703G>C
NM_000018.3:c.1512G>C NP_000009.1:p.Glu504Asp
NM_001033859.2:c.1446G>C NP_001029031.1:p.Glu482Asp
NM_001270447.1:c.1581G>C NP_001257376.1:p.Glu527Asp
NM_001270448.1:c.1284G>C NP_001257377.1:p.Glu428Asp
XM_006721516.2:c.1512G>C XP_006721579.2:p.Glu504Asp
XM_011523829.1:c.1435-98G>C XP_011522131.1:n.1435-98G>C
XM_011523830.1:c.1435-98G>C XP_011522132.1:n.1435-98G>C
XR_934021.1:n.1619G>C
XR_934022.1:n.1542-98G>C
XR_934023.1:n.1542-98G>C
XM_006721516.3:c.1512G>C XP_006721579.2:p.Glu504Asp
XM_011523829.2:c.1435-98G>C XP_011522131.1:n.1435-98G>C
XM_011523830.2:c.1435-98G>C XP_011522132.1:n.1435-98G>C
XM_024450741.1:c.1435-98G>C XP_024306509.1:n.1435-98G>C
XR_934021.2:n.1571G>C
XR_934022.2:n.1494-98G>C
XR_934023.2:n.1494-98G>C
NM_000018.4:c.1512G>C MANE Select NP_000009.1:p.Glu504Asp
NM_001033859.3:c.1446G>C NP_001029031.1:p.Glu482Asp
NM_001270447.2:c.1581G>C NP_001257376.1:p.Glu527Asp
NM_001270448.2:c.1284G>C NP_001257377.1:p.Glu428Asp