Canonical Allele Identifier: CA397725410
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224365A>C , CM000679.2:g.7224365A>C GRCh38
NC_000017.10:g.7127684A>C , CM000679.1:g.7127684A>C GRCh37
NC_000017.9:g.7068408A>C NCBI36
NG_007975.1:g.9532A>C
NG_008391.2:g.686T>G
NG_033038.1:g.15180T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1577A>C MANE Select ENSP00000349297.5:p.His526Pro
ENST00000322910.9:c.*1532A>C ENSP00000325395.5:n.*1532A>C
ENST00000350303.9:c.1511A>C ENSP00000344152.5:p.His504Pro
ENST00000356839.9:c.1577A>C ENSP00000349297.5:p.His526Pro
ENST00000542255.6:c.435A>C
ENST00000543245.6:c.1646A>C ENSP00000438689.2:p.His549Pro
ENST00000578319.5:n.72A>C
ENST00000578711.1:n.861A>C
ENST00000578809.5:n.149A>C
ENST00000579391.1:n.185A>C
ENST00000579425.5:n.693A>C
ENST00000579546.1:c.316A>C
ENST00000579894.5:n.364A>C
ENST00000582450.1:n.85A>C
ENST00000583074.5:n.198A>C
ENST00000583850.5:n.352A>C
ENST00000583858.5:c.508A>C
ENST00000585203.6:n.768A>C
NM_000018.3:c.1577A>C NP_000009.1:p.His526Pro
NM_001033859.2:c.1511A>C NP_001029031.1:p.His504Pro
NM_001270447.1:c.1646A>C NP_001257376.1:p.His549Pro
NM_001270448.1:c.1349A>C NP_001257377.1:p.His450Pro
XM_006721516.2:c.1577A>C XP_006721579.2:p.His526Pro
XM_011523829.1:c.1479A>C XP_011522131.1:p.Pro493=
XM_011523830.1:c.1479A>C XP_011522132.1:p.Pro493=
XR_934021.1:n.1684A>C
XR_934022.1:n.1586A>C
XR_934023.1:n.1586A>C
XM_006721516.3:c.1577A>C XP_006721579.2:p.His526Pro
XM_011523829.2:c.1479A>C XP_011522131.1:p.Pro493=
XM_011523830.2:c.1479A>C XP_011522132.1:p.Pro493=
XM_024450741.1:c.1479A>C XP_024306509.1:p.Pro493=
XR_934021.2:n.1636A>C
XR_934022.2:n.1538A>C
XR_934023.2:n.1538A>C
NM_000018.4:c.1577A>C MANE Select NP_000009.1:p.His526Pro
NM_001033859.3:c.1511A>C NP_001029031.1:p.His504Pro
NM_001270447.2:c.1646A>C NP_001257376.1:p.His549Pro
NM_001270448.2:c.1349A>C NP_001257377.1:p.His450Pro