Canonical Allele Identifier: CA397725408
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1576C>T MANE Select ENSP00000349297.5:p.His526Tyr
ENST00000322910.9:c.*1531C>T ENSP00000325395.5:n.*1531C>T
ENST00000350303.9:c.1510C>T ENSP00000344152.5:p.His504Tyr
ENST00000356839.9:c.1576C>T ENSP00000349297.5:p.His526Tyr
ENST00000542255.6:c.434C>T
ENST00000543245.6:c.1645C>T ENSP00000438689.2:p.His549Tyr
ENST00000578319.5:n.71C>T
ENST00000578711.1:n.860C>T
ENST00000578809.5:n.148C>T
ENST00000579391.1:n.184C>T
ENST00000579425.5:n.692C>T
ENST00000579546.1:c.315C>T
ENST00000579894.5:n.363C>T
ENST00000582450.1:n.84C>T
ENST00000583074.5:n.197C>T
ENST00000583850.5:n.351C>T
ENST00000583858.5:c.507C>T
ENST00000585203.6:n.767C>T
NM_000018.3:c.1576C>T NP_000009.1:p.His526Tyr
NM_001033859.2:c.1510C>T NP_001029031.1:p.His504Tyr
NM_001270447.1:c.1645C>T NP_001257376.1:p.His549Tyr
NM_001270448.1:c.1348C>T NP_001257377.1:p.His450Tyr
XM_006721516.2:c.1576C>T XP_006721579.2:p.His526Tyr
XM_011523829.1:c.1478C>T XP_011522131.1:p.Pro493Leu
XM_011523830.1:c.1478C>T XP_011522132.1:p.Pro493Leu
XR_934021.1:n.1683C>T
XR_934022.1:n.1585C>T
XR_934023.1:n.1585C>T
XM_006721516.3:c.1576C>T XP_006721579.2:p.His526Tyr
XM_011523829.2:c.1478C>T XP_011522131.1:p.Pro493Leu
XM_011523830.2:c.1478C>T XP_011522132.1:p.Pro493Leu
XM_024450741.1:c.1478C>T XP_024306509.1:p.Pro493Leu
XR_934021.2:n.1635C>T
XR_934022.2:n.1537C>T
XR_934023.2:n.1537C>T
NM_000018.4:c.1576C>T MANE Select NP_000009.1:p.His526Tyr
NM_001033859.3:c.1510C>T NP_001029031.1:p.His504Tyr
NM_001270447.2:c.1645C>T NP_001257376.1:p.His549Tyr
NM_001270448.2:c.1348C>T NP_001257377.1:p.His450Tyr