Canonical Allele Identifier: CA397723589
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932843
ClinVar RCV Id: RCV001200799
dbSNP Id: rs2071258420
MyVariant Identifiers: chr17:g.7125394G>A (hg19) chr17:g.7222075G>A (hg38)
ERepo: CA397723589/MONDO:0008723/021
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222075G>A , CM000679.2:g.7222075G>A GRCh38
NC_000017.10:g.7125394G>A , CM000679.1:g.7125394G>A GRCh37
NC_000017.9:g.7066118G>A NCBI36
NG_007975.1:g.7242G>A
NG_008391.2:g.2976C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.746G>A MANE Select ENSP00000349297.5:p.Trp249Ter
ENST00000322910.9:c.*701G>A ENSP00000325395.5:n.*701G>A
ENST00000350303.9:c.680G>A ENSP00000344152.5:p.Trp227Ter
ENST00000356839.9:c.746G>A ENSP00000349297.5:p.Trp249Ter
ENST00000543245.6:c.815G>A ENSP00000438689.2:p.Trp272Ter
ENST00000577191.5:n.823G>A
ENST00000577857.5:n.562G>A
ENST00000579286.5:n.927G>A
ENST00000580365.1:n.477G>A
ENST00000581378.5:c.464G>A
ENST00000582379.1:n.130G>A
ENST00000583760.1:n.528G>A
NM_000018.3:c.746G>A NP_000009.1:p.Trp249Ter
NM_001033859.2:c.680G>A NP_001029031.1:p.Trp227Ter
NM_001270447.1:c.815G>A NP_001257376.1:p.Trp272Ter
NM_001270448.1:c.518G>A NP_001257377.1:p.Trp173Ter
XM_006721516.2:c.746G>A XP_006721579.2:p.Trp249Ter
XM_011523829.1:c.746G>A XP_011522131.1:p.Trp249Ter
XM_011523830.1:c.746G>A XP_011522132.1:p.Trp249Ter
XR_934021.1:n.853G>A
XR_934022.1:n.853G>A
XR_934023.1:n.853G>A
XM_006721516.3:c.746G>A XP_006721579.2:p.Trp249Ter
XM_011523829.2:c.746G>A XP_011522131.1:p.Trp249Ter
XM_011523830.2:c.746G>A XP_011522132.1:p.Trp249Ter
XM_024450741.1:c.746G>A XP_024306509.1:p.Trp249Ter
XR_934021.2:n.805G>A
XR_934022.2:n.805G>A
XR_934023.2:n.805G>A
NM_000018.4:c.746G>A MANE Select NP_000009.1:p.Trp249Ter
NM_001033859.3:c.680G>A NP_001029031.1:p.Trp227Ter
NM_001270447.2:c.815G>A NP_001257376.1:p.Trp272Ter
NM_001270448.2:c.518G>A NP_001257377.1:p.Trp173Ter
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