Canonical Allele Identifier: CA497694392
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127641C>A (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1534C>A MANE Select ENSP00000349297.5:p.Arg512=
ENST00000322910.9:c.*1489C>A ENSP00000325395.5:n.*1489C>A
ENST00000350303.9:c.1468C>A ENSP00000344152.5:p.Arg490=
ENST00000356839.9:c.1534C>A ENSP00000349297.5:p.Arg512=
ENST00000542255.6:c.392C>A
ENST00000543245.6:c.1603C>A ENSP00000438689.2:p.Arg535=
ENST00000578319.5:n.29C>A
ENST00000578711.1:n.818C>A
ENST00000578809.5:n.106C>A
ENST00000579391.1:n.142C>A
ENST00000579425.5:n.650C>A
ENST00000579546.1:c.273C>A
ENST00000579894.5:n.321C>A
ENST00000582450.1:n.42C>A
ENST00000583074.5:n.155C>A
ENST00000583850.5:n.309C>A
ENST00000583858.5:c.465C>A
ENST00000585203.6:n.725C>A
NM_000018.3:c.1534C>A NP_000009.1:p.Arg512=
NM_001033859.2:c.1468C>A NP_001029031.1:p.Arg490=
NM_001270447.1:c.1603C>A NP_001257376.1:p.Arg535=
NM_001270448.1:c.1306C>A NP_001257377.1:p.Arg436=
XM_006721516.2:c.1534C>A XP_006721579.2:p.Arg512=
XM_011523829.1:c.1436C>A XP_011522131.1:p.Ala479Glu
XM_011523830.1:c.1436C>A XP_011522132.1:p.Ala479Glu
XR_934021.1:n.1641C>A
XR_934022.1:n.1543C>A
XR_934023.1:n.1543C>A
XM_006721516.3:c.1534C>A XP_006721579.2:p.Arg512=
XM_011523829.2:c.1436C>A XP_011522131.1:p.Ala479Glu
XM_011523830.2:c.1436C>A XP_011522132.1:p.Ala479Glu
XM_024450741.1:c.1436C>A XP_024306509.1:p.Ala479Glu
XR_934021.2:n.1593C>A
XR_934022.2:n.1495C>A
XR_934023.2:n.1495C>A
NM_000018.4:c.1534C>A MANE Select NP_000009.1:p.Arg512=
NM_001033859.3:c.1468C>A NP_001029031.1:p.Arg490=
NM_001270447.2:c.1603C>A NP_001257376.1:p.Arg535=
NM_001270448.2:c.1306C>A NP_001257377.1:p.Arg436=
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