Canonical Allele Identifier: CA397726004
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224966C>G , CM000679.2:g.7224966C>G GRCh38
NC_000017.10:g.7128285C>G , CM000679.1:g.7128285C>G GRCh37
NC_000017.9:g.7069009C>G NCBI36
NG_007975.1:g.10133C>G
NG_008391.2:g.85G>C
NG_033038.1:g.14579G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1837C>G MANE Select ENSP00000349297.5:p.Arg613Gly
ENST00000322910.9:c.*1792C>G ENSP00000325395.5:n.*1792C>G
ENST00000350303.9:c.1771C>G ENSP00000344152.5:p.Arg591Gly
ENST00000356839.9:c.1837C>G ENSP00000349297.5:p.Arg613Gly
ENST00000542255.6:c.716C>G
ENST00000543245.6:c.1906C>G ENSP00000438689.2:p.Arg636Gly
ENST00000578033.1:n.262C>G
ENST00000578319.5:n.418C>G
ENST00000578711.1:n.1462C>G
ENST00000578809.5:n.409C>G
ENST00000579425.5:n.953C>G
ENST00000579546.1:c.572C>G
ENST00000583848.5:c.203C>G ENSP00000466487.1:n.203C>G
ENST00000583850.5:n.608C>G
ENST00000583858.5:c.768C>G
NM_000018.3:c.1837C>G NP_000009.1:p.Arg613Gly
NM_001033859.2:c.1771C>G NP_001029031.1:p.Arg591Gly
NM_001270447.1:c.1906C>G NP_001257376.1:p.Arg636Gly
NM_001270448.1:c.1609C>G NP_001257377.1:p.Arg537Gly
XM_006721516.2:c.1858C>G XP_006721579.2:p.Arg620Gly
XM_011523829.1:c.1756C>G XP_011522131.1:p.Arg586Gly
XM_011523830.1:c.1735C>G XP_011522132.1:p.Arg579Gly
XR_934021.1:n.1940C>G
XR_934022.1:n.1846C>G
XR_934023.1:n.1867C>G
XM_006721516.3:c.1858C>G XP_006721579.2:p.Arg620Gly
XM_011523829.2:c.1756C>G XP_011522131.1:p.Arg586Gly
XM_011523830.2:c.1735C>G XP_011522132.1:p.Arg579Gly
XM_024450741.1:c.1825C>G XP_024306509.1:p.Arg609Gly
XR_934021.2:n.1892C>G
XR_934022.2:n.1798C>G
XR_934023.2:n.1819C>G
NM_000018.4:c.1837C>G MANE Select NP_000009.1:p.Arg613Gly
NM_001033859.3:c.1771C>G NP_001029031.1:p.Arg591Gly
NM_001270447.2:c.1906C>G NP_001257376.1:p.Arg636Gly
NM_001270448.2:c.1609C>G NP_001257377.1:p.Arg537Gly