Canonical Allele Identifier: CA397724982
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932769
ClinVar RCV Id: RCV001200710
dbSNP Id: rs766742117
MyVariant Identifiers: chr17:g.7127329C>G (hg19) chr17:g.7224010C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224010C>G , CM000679.2:g.7224010C>G GRCh38
NC_000017.10:g.7127329C>G , CM000679.1:g.7127329C>G GRCh37
NC_000017.9:g.7068053C>G NCBI36
NG_007975.1:g.9177C>G
NG_008391.2:g.1041G>C
NG_033038.1:g.15535G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1375C>G MANE Select ENSP00000349297.5:p.Arg459Gly
ENST00000322910.9:c.*1330C>G ENSP00000325395.5:n.*1330C>G
ENST00000350303.9:c.1309C>G ENSP00000344152.5:p.Arg437Gly
ENST00000356839.9:c.1375C>G ENSP00000349297.5:p.Arg459Gly
ENST00000542255.6:c.233C>G
ENST00000543245.6:c.1444C>G ENSP00000438689.2:p.Arg482Gly
ENST00000578711.1:n.506C>G
ENST00000579425.5:n.491C>G
ENST00000579546.1:c.212C>G
ENST00000579894.5:n.86C>G
ENST00000583074.5:n.94C>G
ENST00000583850.5:n.150C>G
ENST00000583858.5:c.404C>G
ENST00000585203.6:n.566C>G
NM_000018.3:c.1375C>G NP_000009.1:p.Arg459Gly
NM_001033859.2:c.1309C>G NP_001029031.1:p.Arg437Gly
NM_001270447.1:c.1444C>G NP_001257376.1:p.Arg482Gly
NM_001270448.1:c.1147C>G NP_001257377.1:p.Arg383Gly
XM_006721516.2:c.1375C>G XP_006721579.2:p.Arg459Gly
XM_011523829.1:c.1375C>G XP_011522131.1:p.Arg459Gly
XM_011523830.1:c.1375C>G XP_011522132.1:p.Arg459Gly
XR_934021.1:n.1482C>G
XR_934022.1:n.1482C>G
XR_934023.1:n.1482C>G
XM_006721516.3:c.1375C>G XP_006721579.2:p.Arg459Gly
XM_011523829.2:c.1375C>G XP_011522131.1:p.Arg459Gly
XM_011523830.2:c.1375C>G XP_011522132.1:p.Arg459Gly
XM_024450741.1:c.1375C>G XP_024306509.1:p.Arg459Gly
XR_934021.2:n.1434C>G
XR_934022.2:n.1434C>G
XR_934023.2:n.1434C>G
NM_000018.4:c.1375C>G MANE Select NP_000009.1:p.Arg459Gly
NM_001033859.3:c.1309C>G NP_001029031.1:p.Arg437Gly
NM_001270447.2:c.1444C>G NP_001257376.1:p.Arg482Gly
NM_001270448.2:c.1147C>G NP_001257377.1:p.Arg383Gly
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