Canonical Allele Identifier: CA397725653
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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