Canonical Allele Identifier: CA397725328
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224322C>G , CM000679.2:g.7224322C>G GRCh38
NC_000017.10:g.7127641C>G , CM000679.1:g.7127641C>G GRCh37
NC_000017.9:g.7068365C>G NCBI36
NG_007975.1:g.9489C>G
NG_008391.2:g.729G>C
NG_033038.1:g.15223G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1534C>G MANE Select ENSP00000349297.5:p.Arg512Gly
ENST00000322910.9:c.*1489C>G ENSP00000325395.5:n.*1489C>G
ENST00000350303.9:c.1468C>G ENSP00000344152.5:p.Arg490Gly
ENST00000356839.9:c.1534C>G ENSP00000349297.5:p.Arg512Gly
ENST00000542255.6:c.392C>G
ENST00000543245.6:c.1603C>G ENSP00000438689.2:p.Arg535Gly
ENST00000578319.5:n.29C>G
ENST00000578711.1:n.818C>G
ENST00000578809.5:n.106C>G
ENST00000579391.1:n.142C>G
ENST00000579425.5:n.650C>G
ENST00000579546.1:c.273C>G
ENST00000579894.5:n.321C>G
ENST00000582450.1:n.42C>G
ENST00000583074.5:n.155C>G
ENST00000583850.5:n.309C>G
ENST00000583858.5:c.465C>G
ENST00000585203.6:n.725C>G
NM_000018.3:c.1534C>G NP_000009.1:p.Arg512Gly
NM_001033859.2:c.1468C>G NP_001029031.1:p.Arg490Gly
NM_001270447.1:c.1603C>G NP_001257376.1:p.Arg535Gly
NM_001270448.1:c.1306C>G NP_001257377.1:p.Arg436Gly
XM_006721516.2:c.1534C>G XP_006721579.2:p.Arg512Gly
XM_011523829.1:c.1436C>G XP_011522131.1:p.Ala479Gly
XM_011523830.1:c.1436C>G XP_011522132.1:p.Ala479Gly
XR_934021.1:n.1641C>G
XR_934022.1:n.1543C>G
XR_934023.1:n.1543C>G
XM_006721516.3:c.1534C>G XP_006721579.2:p.Arg512Gly
XM_011523829.2:c.1436C>G XP_011522131.1:p.Ala479Gly
XM_011523830.2:c.1436C>G XP_011522132.1:p.Ala479Gly
XM_024450741.1:c.1436C>G XP_024306509.1:p.Ala479Gly
XR_934021.2:n.1593C>G
XR_934022.2:n.1495C>G
XR_934023.2:n.1495C>G
NM_000018.4:c.1534C>G MANE Select NP_000009.1:p.Arg512Gly
NM_001033859.3:c.1468C>G NP_001029031.1:p.Arg490Gly
NM_001270447.2:c.1603C>G NP_001257376.1:p.Arg535Gly
NM_001270448.2:c.1306C>G NP_001257377.1:p.Arg436Gly