Canonical Allele Identifier: CA397723591
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125394G>T (hg19) chr17:g.7222075G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.746G>T MANE Select ENSP00000349297.5:p.Trp249Leu
ENST00000322910.9:c.*701G>T ENSP00000325395.5:n.*701G>T
ENST00000350303.9:c.680G>T ENSP00000344152.5:p.Trp227Leu
ENST00000356839.9:c.746G>T ENSP00000349297.5:p.Trp249Leu
ENST00000543245.6:c.815G>T ENSP00000438689.2:p.Trp272Leu
ENST00000577191.5:n.823G>T
ENST00000577857.5:n.562G>T
ENST00000579286.5:n.927G>T
ENST00000580365.1:n.477G>T
ENST00000581378.5:c.464G>T
ENST00000582379.1:n.130G>T
ENST00000583760.1:n.528G>T
NM_000018.3:c.746G>T NP_000009.1:p.Trp249Leu
NM_001033859.2:c.680G>T NP_001029031.1:p.Trp227Leu
NM_001270447.1:c.815G>T NP_001257376.1:p.Trp272Leu
NM_001270448.1:c.518G>T NP_001257377.1:p.Trp173Leu
XM_006721516.2:c.746G>T XP_006721579.2:p.Trp249Leu
XM_011523829.1:c.746G>T XP_011522131.1:p.Trp249Leu
XM_011523830.1:c.746G>T XP_011522132.1:p.Trp249Leu
XR_934021.1:n.853G>T
XR_934022.1:n.853G>T
XR_934023.1:n.853G>T
XM_006721516.3:c.746G>T XP_006721579.2:p.Trp249Leu
XM_011523829.2:c.746G>T XP_011522131.1:p.Trp249Leu
XM_011523830.2:c.746G>T XP_011522132.1:p.Trp249Leu
XM_024450741.1:c.746G>T XP_024306509.1:p.Trp249Leu
XR_934021.2:n.805G>T
XR_934022.2:n.805G>T
XR_934023.2:n.805G>T
NM_000018.4:c.746G>T MANE Select NP_000009.1:p.Trp249Leu
NM_001033859.3:c.680G>T NP_001029031.1:p.Trp227Leu
NM_001270447.2:c.815G>T NP_001257376.1:p.Trp272Leu
NM_001270448.2:c.518G>T NP_001257377.1:p.Trp173Leu
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