Canonical Allele Identifier: CA397725535
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224508C>T , CM000679.2:g.7224508C>T GRCh38
NC_000017.10:g.7127827C>T , CM000679.1:g.7127827C>T GRCh37
NC_000017.9:g.7068551C>T NCBI36
NG_007975.1:g.9675C>T
NG_008391.2:g.543G>A
NG_033038.1:g.15037G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1634C>T MANE Select ENSP00000349297.5:p.Thr545Ile
ENST00000322910.9:c.*1589C>T ENSP00000325395.5:n.*1589C>T
ENST00000350303.9:c.1568C>T ENSP00000344152.5:p.Thr523Ile
ENST00000356839.9:c.1634C>T ENSP00000349297.5:p.Thr545Ile
ENST00000542255.6:c.492C>T
ENST00000543245.6:c.1703C>T ENSP00000438689.2:p.Thr568Ile
ENST00000578319.5:n.215C>T
ENST00000578711.1:n.1004C>T
ENST00000578809.5:n.206C>T
ENST00000579391.1:n.238C>T
ENST00000579425.5:n.750C>T
ENST00000579546.1:c.369C>T
ENST00000579894.5:n.421C>T
ENST00000582450.1:n.142C>T
ENST00000583074.5:n.255C>T
ENST00000583848.5:c.20C>T ENSP00000466487.1:p.Thr7Ile
ENST00000583850.5:n.405C>T
ENST00000583858.5:c.565C>T
ENST00000585203.6:n.825C>T
NM_000018.3:c.1634C>T NP_000009.1:p.Thr545Ile
NM_001033859.2:c.1568C>T NP_001029031.1:p.Thr523Ile
NM_001270447.1:c.1703C>T NP_001257376.1:p.Thr568Ile
NM_001270448.1:c.1406C>T NP_001257377.1:p.Thr469Ile
XM_006721516.2:c.1634C>T XP_006721579.2:p.Thr545Ile
XM_011523829.1:c.1532C>T XP_011522131.1:p.Thr511Ile
XM_011523830.1:c.1532C>T XP_011522132.1:p.Thr511Ile
XR_934021.1:n.1737C>T
XR_934022.1:n.1643C>T
XR_934023.1:n.1643C>T
XM_006721516.3:c.1634C>T XP_006721579.2:p.Thr545Ile
XM_011523829.2:c.1532C>T XP_011522131.1:p.Thr511Ile
XM_011523830.2:c.1532C>T XP_011522132.1:p.Thr511Ile
XM_024450741.1:c.1622C>T XP_024306509.1:p.Thr541Ile
XR_934021.2:n.1689C>T
XR_934022.2:n.1595C>T
XR_934023.2:n.1595C>T
NM_000018.4:c.1634C>T MANE Select NP_000009.1:p.Thr545Ile
NM_001033859.3:c.1568C>T NP_001029031.1:p.Thr523Ile
NM_001270447.2:c.1703C>T NP_001257376.1:p.Thr568Ile
NM_001270448.2:c.1406C>T NP_001257377.1:p.Thr469Ile