Canonical Allele Identifier: CA397725681
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224659C>G , CM000679.2:g.7224659C>G GRCh38
NC_000017.10:g.7127978C>G , CM000679.1:g.7127978C>G GRCh37
NC_000017.9:g.7068702C>G NCBI36
NG_007975.1:g.9826C>G
NG_008391.2:g.392G>C
NG_033038.1:g.14886G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1696C>G MANE Select ENSP00000349297.5:p.Gln566Glu
ENST00000322910.9:c.*1651C>G ENSP00000325395.5:n.*1651C>G
ENST00000350303.9:c.1630C>G ENSP00000344152.5:p.Gln544Glu
ENST00000356839.9:c.1696C>G ENSP00000349297.5:p.Gln566Glu
ENST00000542255.6:c.537-56C>G
ENST00000543245.6:c.1765C>G ENSP00000438689.2:p.Gln589Glu
ENST00000578033.1:n.27C>G
ENST00000578319.5:n.277C>G
ENST00000578711.1:n.1155C>G
ENST00000578809.5:n.268C>G
ENST00000579425.5:n.812C>G
ENST00000579546.1:c.431C>G
ENST00000582450.1:n.293C>G
ENST00000583074.5:n.300-56C>G
ENST00000583848.5:c.65-3C>G ENSP00000466487.1:n.65-3C>G
ENST00000583850.5:n.467C>G
ENST00000583858.5:c.627C>G
ENST00000585203.6:n.887C>G
NM_000018.3:c.1696C>G NP_000009.1:p.Gln566Glu
NM_001033859.2:c.1630C>G NP_001029031.1:p.Gln544Glu
NM_001270447.1:c.1765C>G NP_001257376.1:p.Gln589Glu
NM_001270448.1:c.1468C>G NP_001257377.1:p.Gln490Glu
XM_006721516.2:c.1679-56C>G XP_006721579.2:n.1679-56C>G
XM_011523829.1:c.1577-56C>G XP_011522131.1:n.1577-56C>G
XM_011523830.1:c.1594C>G XP_011522132.1:p.Gln532Glu
XR_934021.1:n.1799C>G
XR_934022.1:n.1705C>G
XR_934023.1:n.1688-56C>G
XM_006721516.3:c.1679-56C>G XP_006721579.2:n.1679-56C>G
XM_011523829.2:c.1577-56C>G XP_011522131.1:n.1577-56C>G
XM_011523830.2:c.1594C>G XP_011522132.1:p.Gln532Glu
XM_024450741.1:c.1684C>G XP_024306509.1:p.Gln562Glu
XR_934021.2:n.1751C>G
XR_934022.2:n.1657C>G
XR_934023.2:n.1640-56C>G
NM_000018.4:c.1696C>G MANE Select NP_000009.1:p.Gln566Glu
NM_001033859.3:c.1630C>G NP_001029031.1:p.Gln544Glu
NM_001270447.2:c.1765C>G NP_001257376.1:p.Gln589Glu
NM_001270448.2:c.1468C>G NP_001257377.1:p.Gln490Glu