Canonical Allele Identifier: CA397725524
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224503T>G , CM000679.2:g.7224503T>G GRCh38
NC_000017.10:g.7127822T>G , CM000679.1:g.7127822T>G GRCh37
NC_000017.9:g.7068546T>G NCBI36
NG_007975.1:g.9670T>G
NG_008391.2:g.548A>C
NG_033038.1:g.15042A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1629T>G MANE Select ENSP00000349297.5:p.Phe543Leu
ENST00000322910.9:c.*1584T>G ENSP00000325395.5:n.*1584T>G
ENST00000350303.9:c.1563T>G ENSP00000344152.5:p.Phe521Leu
ENST00000356839.9:c.1629T>G ENSP00000349297.5:p.Phe543Leu
ENST00000542255.6:c.487T>G
ENST00000543245.6:c.1698T>G ENSP00000438689.2:p.Phe566Leu
ENST00000578319.5:n.210T>G
ENST00000578711.1:n.999T>G
ENST00000578809.5:n.201T>G
ENST00000579391.1:n.233T>G
ENST00000579425.5:n.745T>G
ENST00000579546.1:c.364T>G
ENST00000579894.5:n.416T>G
ENST00000582450.1:n.137T>G
ENST00000583074.5:n.250T>G
ENST00000583848.5:c.15T>G ENSP00000466487.1:p.Phe5Leu
ENST00000583850.5:n.400T>G
ENST00000583858.5:c.560T>G
ENST00000585203.6:n.820T>G
NM_000018.3:c.1629T>G NP_000009.1:p.Phe543Leu
NM_001033859.2:c.1563T>G NP_001029031.1:p.Phe521Leu
NM_001270447.1:c.1698T>G NP_001257376.1:p.Phe566Leu
NM_001270448.1:c.1401T>G NP_001257377.1:p.Phe467Leu
XM_006721516.2:c.1629T>G XP_006721579.2:p.Phe543Leu
XM_011523829.1:c.1527T>G XP_011522131.1:p.Phe509Leu
XM_011523830.1:c.1527T>G XP_011522132.1:p.Phe509Leu
XR_934021.1:n.1732T>G
XR_934022.1:n.1638T>G
XR_934023.1:n.1638T>G
XM_006721516.3:c.1629T>G XP_006721579.2:p.Phe543Leu
XM_011523829.2:c.1527T>G XP_011522131.1:p.Phe509Leu
XM_011523830.2:c.1527T>G XP_011522132.1:p.Phe509Leu
XM_024450741.1:c.1617T>G XP_024306509.1:p.Phe539Leu
XR_934021.2:n.1684T>G
XR_934022.2:n.1590T>G
XR_934023.2:n.1590T>G
NM_000018.4:c.1629T>G MANE Select NP_000009.1:p.Phe543Leu
NM_001033859.3:c.1563T>G NP_001029031.1:p.Phe521Leu
NM_001270447.2:c.1698T>G NP_001257376.1:p.Phe566Leu
NM_001270448.2:c.1401T>G NP_001257377.1:p.Phe467Leu