Canonical Allele Identifier: CA397723362
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1055357
ClinVar RCV Id: RCV001364012
dbSNP Id: rs2142976575
MyVariant Identifiers: chr17:g.7125283C>T (hg19) chr17:g.7221964C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221964C>T , CM000679.2:g.7221964C>T GRCh38
NC_000017.10:g.7125283C>T , CM000679.1:g.7125283C>T GRCh37
NC_000017.9:g.7066007C>T NCBI36
NG_007975.1:g.7131C>T
NG_008391.2:g.3087G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.635C>T MANE Select ENSP00000349297.5:p.Ala212Val
ENST00000322910.9:c.*590C>T ENSP00000325395.5:n.*590C>T
ENST00000350303.9:c.569C>T ENSP00000344152.5:p.Ala190Val
ENST00000356839.9:c.635C>T ENSP00000349297.5:p.Ala212Val
ENST00000543245.6:c.704C>T ENSP00000438689.2:p.Ala235Val
ENST00000577191.5:n.712C>T
ENST00000577857.5:n.451C>T
ENST00000579286.5:n.816C>T
ENST00000580365.1:n.366C>T
ENST00000581378.5:c.353C>T
ENST00000581562.5:n.537C>T
ENST00000582379.1:n.19C>T
ENST00000583312.5:c.650C>T ENSP00000467920.1:p.Ala217Val
ENST00000583760.1:n.417C>T
NM_000018.3:c.635C>T NP_000009.1:p.Ala212Val
NM_001033859.2:c.569C>T NP_001029031.1:p.Ala190Val
NM_001270447.1:c.704C>T NP_001257376.1:p.Ala235Val
NM_001270448.1:c.407C>T NP_001257377.1:p.Ala136Val
XM_006721516.2:c.635C>T XP_006721579.2:p.Ala212Val
XM_011523829.1:c.635C>T XP_011522131.1:p.Ala212Val
XM_011523830.1:c.635C>T XP_011522132.1:p.Ala212Val
XR_934021.1:n.742C>T
XR_934022.1:n.742C>T
XR_934023.1:n.742C>T
XM_006721516.3:c.635C>T XP_006721579.2:p.Ala212Val
XM_011523829.2:c.635C>T XP_011522131.1:p.Ala212Val
XM_011523830.2:c.635C>T XP_011522132.1:p.Ala212Val
XM_024450741.1:c.635C>T XP_024306509.1:p.Ala212Val
XR_934021.2:n.694C>T
XR_934022.2:n.694C>T
XR_934023.2:n.694C>T
NM_000018.4:c.635C>T MANE Select NP_000009.1:p.Ala212Val
NM_001033859.3:c.569C>T NP_001029031.1:p.Ala190Val
NM_001270447.2:c.704C>T NP_001257376.1:p.Ala235Val
NM_001270448.2:c.407C>T NP_001257377.1:p.Ala136Val
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