Canonical Allele Identifier: CA397725409
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224364C>A , CM000679.2:g.7224364C>A GRCh38
NC_000017.10:g.7127683C>A , CM000679.1:g.7127683C>A GRCh37
NC_000017.9:g.7068407C>A NCBI36
NG_007975.1:g.9531C>A
NG_008391.2:g.687G>T
NG_033038.1:g.15181G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1576C>A MANE Select ENSP00000349297.5:p.His526Asn
ENST00000322910.9:c.*1531C>A ENSP00000325395.5:n.*1531C>A
ENST00000350303.9:c.1510C>A ENSP00000344152.5:p.His504Asn
ENST00000356839.9:c.1576C>A ENSP00000349297.5:p.His526Asn
ENST00000542255.6:c.434C>A
ENST00000543245.6:c.1645C>A ENSP00000438689.2:p.His549Asn
ENST00000578319.5:n.71C>A
ENST00000578711.1:n.860C>A
ENST00000578809.5:n.148C>A
ENST00000579391.1:n.184C>A
ENST00000579425.5:n.692C>A
ENST00000579546.1:c.315C>A
ENST00000579894.5:n.363C>A
ENST00000582450.1:n.84C>A
ENST00000583074.5:n.197C>A
ENST00000583850.5:n.351C>A
ENST00000583858.5:c.507C>A
ENST00000585203.6:n.767C>A
NM_000018.3:c.1576C>A NP_000009.1:p.His526Asn
NM_001033859.2:c.1510C>A NP_001029031.1:p.His504Asn
NM_001270447.1:c.1645C>A NP_001257376.1:p.His549Asn
NM_001270448.1:c.1348C>A NP_001257377.1:p.His450Asn
XM_006721516.2:c.1576C>A XP_006721579.2:p.His526Asn
XM_011523829.1:c.1478C>A XP_011522131.1:p.Pro493Gln
XM_011523830.1:c.1478C>A XP_011522132.1:p.Pro493Gln
XR_934021.1:n.1683C>A
XR_934022.1:n.1585C>A
XR_934023.1:n.1585C>A
XM_006721516.3:c.1576C>A XP_006721579.2:p.His526Asn
XM_011523829.2:c.1478C>A XP_011522131.1:p.Pro493Gln
XM_011523830.2:c.1478C>A XP_011522132.1:p.Pro493Gln
XM_024450741.1:c.1478C>A XP_024306509.1:p.Pro493Gln
XR_934021.2:n.1635C>A
XR_934022.2:n.1537C>A
XR_934023.2:n.1537C>A
NM_000018.4:c.1576C>A MANE Select NP_000009.1:p.His526Asn
NM_001033859.3:c.1510C>A NP_001029031.1:p.His504Asn
NM_001270447.2:c.1645C>A NP_001257376.1:p.His549Asn
NM_001270448.2:c.1348C>A NP_001257377.1:p.His450Asn