Canonical Allele Identifier: CA497620232
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126094C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222775C>G , CM000679.2:g.7222775C>G GRCh38
NC_000017.10:g.7126094C>G , CM000679.1:g.7126094C>G GRCh37
NC_000017.9:g.7066818C>G NCBI36
NG_007975.1:g.7942C>G
NG_008391.2:g.2276G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.987C>G MANE Select ENSP00000349297.5:p.Gly329=
ENST00000322910.9:c.*942C>G ENSP00000325395.5:n.*942C>G
ENST00000350303.9:c.921C>G ENSP00000344152.5:p.Gly307=
ENST00000356839.9:c.987C>G ENSP00000349297.5:p.Gly329=
ENST00000543245.6:c.1056C>G ENSP00000438689.2:p.Gly352=
ENST00000578824.5:n.136C>G
ENST00000581378.5:c.705C>G
ENST00000582379.1:n.371C>G
ENST00000583858.5:c.16C>G
NM_000018.3:c.987C>G NP_000009.1:p.Gly329=
NM_001033859.2:c.921C>G NP_001029031.1:p.Gly307=
NM_001270447.1:c.1056C>G NP_001257376.1:p.Gly352=
NM_001270448.1:c.759C>G NP_001257377.1:p.Gly253=
XM_006721516.2:c.987C>G XP_006721579.2:p.Gly329=
XM_011523829.1:c.987C>G XP_011522131.1:p.Gly329=
XM_011523830.1:c.987C>G XP_011522132.1:p.Gly329=
XR_934021.1:n.1094C>G
XR_934022.1:n.1094C>G
XR_934023.1:n.1094C>G
XM_006721516.3:c.987C>G XP_006721579.2:p.Gly329=
XM_011523829.2:c.987C>G XP_011522131.1:p.Gly329=
XM_011523830.2:c.987C>G XP_011522132.1:p.Gly329=
XM_024450741.1:c.987C>G XP_024306509.1:p.Gly329=
XR_934021.2:n.1046C>G
XR_934022.2:n.1046C>G
XR_934023.2:n.1046C>G
NM_000018.4:c.987C>G MANE Select NP_000009.1:p.Gly329=
NM_001033859.3:c.921C>G NP_001029031.1:p.Gly307=
NM_001270447.2:c.1056C>G NP_001257376.1:p.Gly352=
NM_001270448.2:c.759C>G NP_001257377.1:p.Gly253=
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