Canonical Allele Identifier: CA397725652
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224645A>T , CM000679.2:g.7224645A>T GRCh38
NC_000017.10:g.7127964A>T , CM000679.1:g.7127964A>T GRCh37
NC_000017.9:g.7068688A>T NCBI36
NG_007975.1:g.9812A>T
NG_008391.2:g.406T>A
NG_033038.1:g.14900T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1682A>T MANE Select ENSP00000349297.5:p.Glu561Val
ENST00000322910.9:c.*1637A>T ENSP00000325395.5:n.*1637A>T
ENST00000350303.9:c.1616A>T ENSP00000344152.5:p.Glu539Val
ENST00000356839.9:c.1682A>T ENSP00000349297.5:p.Glu561Val
ENST00000542255.6:c.537-70A>T
ENST00000543245.6:c.1751A>T ENSP00000438689.2:p.Glu584Val
ENST00000578033.1:n.13A>T
ENST00000578319.5:n.263A>T
ENST00000578711.1:n.1141A>T
ENST00000578809.5:n.254A>T
ENST00000579425.5:n.798A>T
ENST00000579546.1:c.417A>T
ENST00000582450.1:n.279A>T
ENST00000583074.5:n.300-70A>T
ENST00000583848.5:c.65-17A>T ENSP00000466487.1:n.65-17A>T
ENST00000583850.5:n.453A>T
ENST00000583858.5:c.613A>T
ENST00000585203.6:n.873A>T
NM_000018.3:c.1682A>T NP_000009.1:p.Glu561Val
NM_001033859.2:c.1616A>T NP_001029031.1:p.Glu539Val
NM_001270447.1:c.1751A>T NP_001257376.1:p.Glu584Val
NM_001270448.1:c.1454A>T NP_001257377.1:p.Glu485Val
XM_006721516.2:c.1679-70A>T XP_006721579.2:n.1679-70A>T
XM_011523829.1:c.1577-70A>T XP_011522131.1:n.1577-70A>T
XM_011523830.1:c.1580A>T XP_011522132.1:p.Glu527Val
XR_934021.1:n.1785A>T
XR_934022.1:n.1691A>T
XR_934023.1:n.1688-70A>T
XM_006721516.3:c.1679-70A>T XP_006721579.2:n.1679-70A>T
XM_011523829.2:c.1577-70A>T XP_011522131.1:n.1577-70A>T
XM_011523830.2:c.1580A>T XP_011522132.1:p.Glu527Val
XM_024450741.1:c.1670A>T XP_024306509.1:p.Glu557Val
XR_934021.2:n.1737A>T
XR_934022.2:n.1643A>T
XR_934023.2:n.1640-70A>T
NM_000018.4:c.1682A>T MANE Select NP_000009.1:p.Glu561Val
NM_001033859.3:c.1616A>T NP_001029031.1:p.Glu539Val
NM_001270447.2:c.1751A>T NP_001257376.1:p.Glu584Val
NM_001270448.2:c.1454A>T NP_001257377.1:p.Glu485Val