Canonical Allele Identifier: CA2245713390
Gene: ACADVL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224215C= , CM000679.2:g.7224215C= GRCh38
NC_000017.10:g.7127534C= , CM000679.1:g.7127534C= GRCh37
NC_000017.9:g.7068258C= NCBI36
NG_007975.1:g.9382C=
NG_008391.2:g.836G=
NG_033038.1:g.15330G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1504C= MANE Select ENSP00000349297.5:p.Leu502=
ENST00000322910.9:c.*1459C= ENSP00000325395.5:n.*1459C=
ENST00000350303.9:c.1438C= ENSP00000344152.5:p.Leu480=
ENST00000356839.9:c.1504C= ENSP00000349297.5:p.Leu502=
ENST00000542255.6:c.362C=
ENST00000543245.6:c.1573C= ENSP00000438689.2:p.Leu525=
ENST00000578711.1:n.711C=
ENST00000579391.1:n.112C=
ENST00000579425.5:n.620C=
ENST00000579546.1:c.272-106C=
ENST00000579894.5:n.291C=
ENST00000583074.5:n.154-106C=
ENST00000583850.5:n.279C=
ENST00000583858.5:c.464-106C=
ENST00000585203.6:n.695C=
NM_000018.3:c.1504C= NP_000009.1:p.Leu502=
NM_001033859.2:c.1438C= NP_001029031.1:p.Leu480=
NM_001270447.1:c.1573C= NP_001257376.1:p.Leu525=
NM_001270448.1:c.1276C= NP_001257377.1:p.Leu426=
XM_006721516.2:c.1504C= XP_006721579.2:p.Leu502=
XM_011523829.1:c.1435-106C= XP_011522131.1:n.1435-106C=
XM_011523830.1:c.1435-106C= XP_011522132.1:n.1435-106C=
XR_934021.1:n.1611C=
XR_934022.1:n.1542-106C=
XR_934023.1:n.1542-106C=
XM_006721516.3:c.1504C= XP_006721579.2:p.Leu502=
XM_011523829.2:c.1435-106C= XP_011522131.1:n.1435-106C=
XM_011523830.2:c.1435-106C= XP_011522132.1:n.1435-106C=
XM_024450741.1:c.1435-106C= XP_024306509.1:n.1435-106C=
XR_934021.2:n.1563C=
XR_934022.2:n.1494-106C=
XR_934023.2:n.1494-106C=
NM_000018.4:c.1504C= MANE Select NP_000009.1:p.Leu502=
NM_001033859.3:c.1438C= NP_001029031.1:p.Leu480=
NM_001270447.2:c.1573C= NP_001257376.1:p.Leu525=
NM_001270448.2:c.1276C= NP_001257377.1:p.Leu426=
Search 100 bp 5'
Search 100 bp 3'