Canonical Allele Identifier: CA397725650
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1682A>C MANE Select ENSP00000349297.5:p.Glu561Ala
ENST00000322910.9:c.*1637A>C ENSP00000325395.5:n.*1637A>C
ENST00000350303.9:c.1616A>C ENSP00000344152.5:p.Glu539Ala
ENST00000356839.9:c.1682A>C ENSP00000349297.5:p.Glu561Ala
ENST00000542255.6:c.537-70A>C
ENST00000543245.6:c.1751A>C ENSP00000438689.2:p.Glu584Ala
ENST00000578033.1:n.13A>C
ENST00000578319.5:n.263A>C
ENST00000578711.1:n.1141A>C
ENST00000578809.5:n.254A>C
ENST00000579425.5:n.798A>C
ENST00000579546.1:c.417A>C
ENST00000582450.1:n.279A>C
ENST00000583074.5:n.300-70A>C
ENST00000583848.5:c.65-17A>C ENSP00000466487.1:n.65-17A>C
ENST00000583850.5:n.453A>C
ENST00000583858.5:c.613A>C
ENST00000585203.6:n.873A>C
NM_000018.3:c.1682A>C NP_000009.1:p.Glu561Ala
NM_001033859.2:c.1616A>C NP_001029031.1:p.Glu539Ala
NM_001270447.1:c.1751A>C NP_001257376.1:p.Glu584Ala
NM_001270448.1:c.1454A>C NP_001257377.1:p.Glu485Ala
XM_006721516.2:c.1679-70A>C XP_006721579.2:n.1679-70A>C
XM_011523829.1:c.1577-70A>C XP_011522131.1:n.1577-70A>C
XM_011523830.1:c.1580A>C XP_011522132.1:p.Glu527Ala
XR_934021.1:n.1785A>C
XR_934022.1:n.1691A>C
XR_934023.1:n.1688-70A>C
XM_006721516.3:c.1679-70A>C XP_006721579.2:n.1679-70A>C
XM_011523829.2:c.1577-70A>C XP_011522131.1:n.1577-70A>C
XM_011523830.2:c.1580A>C XP_011522132.1:p.Glu527Ala
XM_024450741.1:c.1670A>C XP_024306509.1:p.Glu557Ala
XR_934021.2:n.1737A>C
XR_934022.2:n.1643A>C
XR_934023.2:n.1640-70A>C
NM_000018.4:c.1682A>C MANE Select NP_000009.1:p.Glu561Ala
NM_001033859.3:c.1616A>C NP_001029031.1:p.Glu539Ala
NM_001270447.2:c.1751A>C NP_001257376.1:p.Glu584Ala
NM_001270448.2:c.1454A>C NP_001257377.1:p.Glu485Ala