Canonical Allele Identifier: CA397723199
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124955T>G (hg19) chr17:g.7221636T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221636T>G , CM000679.2:g.7221636T>G GRCh38
NC_000017.10:g.7124955T>G , CM000679.1:g.7124955T>G GRCh37
NC_000017.9:g.7065679T>G NCBI36
NG_007975.1:g.6803T>G
NG_008391.2:g.3415A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.576T>G MANE Select ENSP00000349297.5:p.Phe192Leu
ENST00000322910.9:c.*531T>G ENSP00000325395.5:n.*531T>G
ENST00000350303.9:c.510T>G ENSP00000344152.5:p.Phe170Leu
ENST00000356839.9:c.576T>G ENSP00000349297.5:p.Phe192Leu
ENST00000543245.6:c.645T>G ENSP00000438689.2:p.Phe215Leu
ENST00000577191.5:n.653T>G
ENST00000577433.5:n.784T>G
ENST00000577857.5:n.392T>G
ENST00000579286.5:n.757T>G
ENST00000579886.2:c.414T>G ENSP00000463246.1:p.Phe138Leu
ENST00000580365.1:n.307T>G
ENST00000581378.5:c.294T>G
ENST00000581562.5:n.525-316T>G
ENST00000583312.5:c.576T>G ENSP00000467920.1:p.Phe192Leu
ENST00000583760.1:n.358T>G
NM_000018.3:c.576T>G NP_000009.1:p.Phe192Leu
NM_001033859.2:c.510T>G NP_001029031.1:p.Phe170Leu
NM_001270447.1:c.645T>G NP_001257376.1:p.Phe215Leu
NM_001270448.1:c.348T>G NP_001257377.1:p.Phe116Leu
XM_006721516.2:c.576T>G XP_006721579.2:p.Phe192Leu
XM_011523829.1:c.576T>G XP_011522131.1:p.Phe192Leu
XM_011523830.1:c.576T>G XP_011522132.1:p.Phe192Leu
XR_934021.1:n.683T>G
XR_934022.1:n.683T>G
XR_934023.1:n.683T>G
XM_006721516.3:c.576T>G XP_006721579.2:p.Phe192Leu
XM_011523829.2:c.576T>G XP_011522131.1:p.Phe192Leu
XM_011523830.2:c.576T>G XP_011522132.1:p.Phe192Leu
XM_024450741.1:c.576T>G XP_024306509.1:p.Phe192Leu
XR_934021.2:n.635T>G
XR_934022.2:n.635T>G
XR_934023.2:n.635T>G
NM_000018.4:c.576T>G MANE Select NP_000009.1:p.Phe192Leu
NM_001033859.3:c.510T>G NP_001029031.1:p.Phe170Leu
NM_001270447.2:c.645T>G NP_001257376.1:p.Phe215Leu
NM_001270448.2:c.348T>G NP_001257377.1:p.Phe116Leu
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