Canonical Allele Identifier: CA397725532
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224507A>G , CM000679.2:g.7224507A>G GRCh38
NC_000017.10:g.7127826A>G , CM000679.1:g.7127826A>G GRCh37
NC_000017.9:g.7068550A>G NCBI36
NG_007975.1:g.9674A>G
NG_008391.2:g.544T>C
NG_033038.1:g.15038T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1633A>G MANE Select ENSP00000349297.5:p.Thr545Ala
ENST00000322910.9:c.*1588A>G ENSP00000325395.5:n.*1588A>G
ENST00000350303.9:c.1567A>G ENSP00000344152.5:p.Thr523Ala
ENST00000356839.9:c.1633A>G ENSP00000349297.5:p.Thr545Ala
ENST00000542255.6:c.491A>G
ENST00000543245.6:c.1702A>G ENSP00000438689.2:p.Thr568Ala
ENST00000578319.5:n.214A>G
ENST00000578711.1:n.1003A>G
ENST00000578809.5:n.205A>G
ENST00000579391.1:n.237A>G
ENST00000579425.5:n.749A>G
ENST00000579546.1:c.368A>G
ENST00000579894.5:n.420A>G
ENST00000582450.1:n.141A>G
ENST00000583074.5:n.254A>G
ENST00000583848.5:c.19A>G ENSP00000466487.1:p.Thr7Ala
ENST00000583850.5:n.404A>G
ENST00000583858.5:c.564A>G
ENST00000585203.6:n.824A>G
NM_000018.3:c.1633A>G NP_000009.1:p.Thr545Ala
NM_001033859.2:c.1567A>G NP_001029031.1:p.Thr523Ala
NM_001270447.1:c.1702A>G NP_001257376.1:p.Thr568Ala
NM_001270448.1:c.1405A>G NP_001257377.1:p.Thr469Ala
XM_006721516.2:c.1633A>G XP_006721579.2:p.Thr545Ala
XM_011523829.1:c.1531A>G XP_011522131.1:p.Thr511Ala
XM_011523830.1:c.1531A>G XP_011522132.1:p.Thr511Ala
XR_934021.1:n.1736A>G
XR_934022.1:n.1642A>G
XR_934023.1:n.1642A>G
XM_006721516.3:c.1633A>G XP_006721579.2:p.Thr545Ala
XM_011523829.2:c.1531A>G XP_011522131.1:p.Thr511Ala
XM_011523830.2:c.1531A>G XP_011522132.1:p.Thr511Ala
XM_024450741.1:c.1621A>G XP_024306509.1:p.Thr541Ala
XR_934021.2:n.1688A>G
XR_934022.2:n.1594A>G
XR_934023.2:n.1594A>G
NM_000018.4:c.1633A>G MANE Select NP_000009.1:p.Thr545Ala
NM_001033859.3:c.1567A>G NP_001029031.1:p.Thr523Ala
NM_001270447.2:c.1702A>G NP_001257376.1:p.Thr568Ala
NM_001270448.2:c.1405A>G NP_001257377.1:p.Thr469Ala