Canonical Allele Identifier: CA397725346
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224332T>A , CM000679.2:g.7224332T>A GRCh38
NC_000017.10:g.7127651T>A , CM000679.1:g.7127651T>A GRCh37
NC_000017.9:g.7068375T>A NCBI36
NG_007975.1:g.9499T>A
NG_008391.2:g.719A>T
NG_033038.1:g.15213A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1544T>A MANE Select ENSP00000349297.5:p.Leu515Gln
ENST00000322910.9:c.*1499T>A ENSP00000325395.5:n.*1499T>A
ENST00000350303.9:c.1478T>A ENSP00000344152.5:p.Leu493Gln
ENST00000356839.9:c.1544T>A ENSP00000349297.5:p.Leu515Gln
ENST00000542255.6:c.402T>A
ENST00000543245.6:c.1613T>A ENSP00000438689.2:p.Leu538Gln
ENST00000578319.5:n.39T>A
ENST00000578711.1:n.828T>A
ENST00000578809.5:n.116T>A
ENST00000579391.1:n.152T>A
ENST00000579425.5:n.660T>A
ENST00000579546.1:c.283T>A
ENST00000579894.5:n.331T>A
ENST00000582450.1:n.52T>A
ENST00000583074.5:n.165T>A
ENST00000583850.5:n.319T>A
ENST00000583858.5:c.475T>A
ENST00000585203.6:n.735T>A
NM_000018.3:c.1544T>A NP_000009.1:p.Leu515Gln
NM_001033859.2:c.1478T>A NP_001029031.1:p.Leu493Gln
NM_001270447.1:c.1613T>A NP_001257376.1:p.Leu538Gln
NM_001270448.1:c.1316T>A NP_001257377.1:p.Leu439Gln
XM_006721516.2:c.1544T>A XP_006721579.2:p.Leu515Gln
XM_011523829.1:c.1446T>A XP_011522131.1:p.Ala482=
XM_011523830.1:c.1446T>A XP_011522132.1:p.Ala482=
XR_934021.1:n.1651T>A
XR_934022.1:n.1553T>A
XR_934023.1:n.1553T>A
XM_006721516.3:c.1544T>A XP_006721579.2:p.Leu515Gln
XM_011523829.2:c.1446T>A XP_011522131.1:p.Ala482=
XM_011523830.2:c.1446T>A XP_011522132.1:p.Ala482=
XM_024450741.1:c.1446T>A XP_024306509.1:p.Ala482=
XR_934021.2:n.1603T>A
XR_934022.2:n.1505T>A
XR_934023.2:n.1505T>A
NM_000018.4:c.1544T>A MANE Select NP_000009.1:p.Leu515Gln
NM_001033859.3:c.1478T>A NP_001029031.1:p.Leu493Gln
NM_001270447.2:c.1613T>A NP_001257376.1:p.Leu538Gln
NM_001270448.2:c.1316T>A NP_001257377.1:p.Leu439Gln