Canonical Allele Identifier: CA397725654
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224646A>T , CM000679.2:g.7224646A>T GRCh38
NC_000017.10:g.7127965A>T , CM000679.1:g.7127965A>T GRCh37
NC_000017.9:g.7068689A>T NCBI36
NG_007975.1:g.9813A>T
NG_008391.2:g.405T>A
NG_033038.1:g.14899T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1683A>T MANE Select ENSP00000349297.5:p.Glu561Asp
ENST00000322910.9:c.*1638A>T ENSP00000325395.5:n.*1638A>T
ENST00000350303.9:c.1617A>T ENSP00000344152.5:p.Glu539Asp
ENST00000356839.9:c.1683A>T ENSP00000349297.5:p.Glu561Asp
ENST00000542255.6:c.537-69A>T
ENST00000543245.6:c.1752A>T ENSP00000438689.2:p.Glu584Asp
ENST00000578033.1:n.14A>T
ENST00000578319.5:n.264A>T
ENST00000578711.1:n.1142A>T
ENST00000578809.5:n.255A>T
ENST00000579425.5:n.799A>T
ENST00000579546.1:c.418A>T
ENST00000582450.1:n.280A>T
ENST00000583074.5:n.300-69A>T
ENST00000583848.5:c.65-16A>T ENSP00000466487.1:n.65-16A>T
ENST00000583850.5:n.454A>T
ENST00000583858.5:c.614A>T
ENST00000585203.6:n.874A>T
NM_000018.3:c.1683A>T NP_000009.1:p.Glu561Asp
NM_001033859.2:c.1617A>T NP_001029031.1:p.Glu539Asp
NM_001270447.1:c.1752A>T NP_001257376.1:p.Glu584Asp
NM_001270448.1:c.1455A>T NP_001257377.1:p.Glu485Asp
XM_006721516.2:c.1679-69A>T XP_006721579.2:n.1679-69A>T
XM_011523829.1:c.1577-69A>T XP_011522131.1:n.1577-69A>T
XM_011523830.1:c.1581A>T XP_011522132.1:p.Glu527Asp
XR_934021.1:n.1786A>T
XR_934022.1:n.1692A>T
XR_934023.1:n.1688-69A>T
XM_006721516.3:c.1679-69A>T XP_006721579.2:n.1679-69A>T
XM_011523829.2:c.1577-69A>T XP_011522131.1:n.1577-69A>T
XM_011523830.2:c.1581A>T XP_011522132.1:p.Glu527Asp
XM_024450741.1:c.1671A>T XP_024306509.1:p.Glu557Asp
XR_934021.2:n.1738A>T
XR_934022.2:n.1644A>T
XR_934023.2:n.1640-69A>T
NM_000018.4:c.1683A>T MANE Select NP_000009.1:p.Glu561Asp
NM_001033859.3:c.1617A>T NP_001029031.1:p.Glu539Asp
NM_001270447.2:c.1752A>T NP_001257376.1:p.Glu584Asp
NM_001270448.2:c.1455A>T NP_001257377.1:p.Glu485Asp