Canonical Allele Identifier: CA397723590
Gene: ACADVL HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.746G>C MANE Select ENSP00000349297.5:p.Trp249Ser
ENST00000322910.9:c.*701G>C ENSP00000325395.5:n.*701G>C
ENST00000350303.9:c.680G>C ENSP00000344152.5:p.Trp227Ser
ENST00000356839.9:c.746G>C ENSP00000349297.5:p.Trp249Ser
ENST00000543245.6:c.815G>C ENSP00000438689.2:p.Trp272Ser
ENST00000577191.5:n.823G>C
ENST00000577857.5:n.562G>C
ENST00000579286.5:n.927G>C
ENST00000580365.1:n.477G>C
ENST00000581378.5:c.464G>C
ENST00000582379.1:n.130G>C
ENST00000583760.1:n.528G>C
NM_000018.3:c.746G>C NP_000009.1:p.Trp249Ser
NM_001033859.2:c.680G>C NP_001029031.1:p.Trp227Ser
NM_001270447.1:c.815G>C NP_001257376.1:p.Trp272Ser
NM_001270448.1:c.518G>C NP_001257377.1:p.Trp173Ser
XM_006721516.2:c.746G>C XP_006721579.2:p.Trp249Ser
XM_011523829.1:c.746G>C XP_011522131.1:p.Trp249Ser
XM_011523830.1:c.746G>C XP_011522132.1:p.Trp249Ser
XR_934021.1:n.853G>C
XR_934022.1:n.853G>C
XR_934023.1:n.853G>C
XM_006721516.3:c.746G>C XP_006721579.2:p.Trp249Ser
XM_011523829.2:c.746G>C XP_011522131.1:p.Trp249Ser
XM_011523830.2:c.746G>C XP_011522132.1:p.Trp249Ser
XM_024450741.1:c.746G>C XP_024306509.1:p.Trp249Ser
XR_934021.2:n.805G>C
XR_934022.2:n.805G>C
XR_934023.2:n.805G>C
NM_000018.4:c.746G>C MANE Select NP_000009.1:p.Trp249Ser
NM_001033859.3:c.680G>C NP_001029031.1:p.Trp227Ser
NM_001270447.2:c.815G>C NP_001257376.1:p.Trp272Ser
NM_001270448.2:c.518G>C NP_001257377.1:p.Trp173Ser
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