Canonical Allele Identifier: CA397725399
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224359T>C , CM000679.2:g.7224359T>C GRCh38
NC_000017.10:g.7127678T>C , CM000679.1:g.7127678T>C GRCh37
NC_000017.9:g.7068402T>C NCBI36
NG_007975.1:g.9526T>C
NG_008391.2:g.692A>G
NG_033038.1:g.15186A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1571T>C MANE Select ENSP00000349297.5:p.Leu524Pro
ENST00000322910.9:c.*1526T>C ENSP00000325395.5:n.*1526T>C
ENST00000350303.9:c.1505T>C ENSP00000344152.5:p.Leu502Pro
ENST00000356839.9:c.1571T>C ENSP00000349297.5:p.Leu524Pro
ENST00000542255.6:c.429T>C
ENST00000543245.6:c.1640T>C ENSP00000438689.2:p.Leu547Pro
ENST00000578319.5:n.66T>C
ENST00000578711.1:n.855T>C
ENST00000578809.5:n.143T>C
ENST00000579391.1:n.179T>C
ENST00000579425.5:n.687T>C
ENST00000579546.1:c.310T>C
ENST00000579894.5:n.358T>C
ENST00000582450.1:n.79T>C
ENST00000583074.5:n.192T>C
ENST00000583850.5:n.346T>C
ENST00000583858.5:c.502T>C
ENST00000585203.6:n.762T>C
NM_000018.3:c.1571T>C NP_000009.1:p.Leu524Pro
NM_001033859.2:c.1505T>C NP_001029031.1:p.Leu502Pro
NM_001270447.1:c.1640T>C NP_001257376.1:p.Leu547Pro
NM_001270448.1:c.1343T>C NP_001257377.1:p.Leu448Pro
XM_006721516.2:c.1571T>C XP_006721579.2:p.Leu524Pro
XM_011523829.1:c.1473T>C XP_011522131.1:p.Thr491=
XM_011523830.1:c.1473T>C XP_011522132.1:p.Thr491=
XR_934021.1:n.1678T>C
XR_934022.1:n.1580T>C
XR_934023.1:n.1580T>C
XM_006721516.3:c.1571T>C XP_006721579.2:p.Leu524Pro
XM_011523829.2:c.1473T>C XP_011522131.1:p.Thr491=
XM_011523830.2:c.1473T>C XP_011522132.1:p.Thr491=
XM_024450741.1:c.1473T>C XP_024306509.1:p.Thr491=
XR_934021.2:n.1630T>C
XR_934022.2:n.1532T>C
XR_934023.2:n.1532T>C
NM_000018.4:c.1571T>C MANE Select NP_000009.1:p.Leu524Pro
NM_001033859.3:c.1505T>C NP_001029031.1:p.Leu502Pro
NM_001270447.2:c.1640T>C NP_001257376.1:p.Leu547Pro
NM_001270448.2:c.1343T>C NP_001257377.1:p.Leu448Pro