Canonical Allele Identifier: CA397723197
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124954T>G (hg19) chr17:g.7221635T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221635T>G , CM000679.2:g.7221635T>G GRCh38
NC_000017.10:g.7124954T>G , CM000679.1:g.7124954T>G GRCh37
NC_000017.9:g.7065678T>G NCBI36
NG_007975.1:g.6802T>G
NG_008391.2:g.3416A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.575T>G MANE Select ENSP00000349297.5:p.Phe192Cys
ENST00000322910.9:c.*530T>G ENSP00000325395.5:n.*530T>G
ENST00000350303.9:c.509T>G ENSP00000344152.5:p.Phe170Cys
ENST00000356839.9:c.575T>G ENSP00000349297.5:p.Phe192Cys
ENST00000543245.6:c.644T>G ENSP00000438689.2:p.Phe215Cys
ENST00000577191.5:n.652T>G
ENST00000577433.5:n.783T>G
ENST00000577857.5:n.391T>G
ENST00000579286.5:n.756T>G
ENST00000579886.2:c.413T>G ENSP00000463246.1:p.Phe138Cys
ENST00000580365.1:n.306T>G
ENST00000581378.5:c.293T>G
ENST00000581562.5:n.525-317T>G
ENST00000583312.5:c.575T>G ENSP00000467920.1:p.Phe192Cys
ENST00000583760.1:n.357T>G
NM_000018.3:c.575T>G NP_000009.1:p.Phe192Cys
NM_001033859.2:c.509T>G NP_001029031.1:p.Phe170Cys
NM_001270447.1:c.644T>G NP_001257376.1:p.Phe215Cys
NM_001270448.1:c.347T>G NP_001257377.1:p.Phe116Cys
XM_006721516.2:c.575T>G XP_006721579.2:p.Phe192Cys
XM_011523829.1:c.575T>G XP_011522131.1:p.Phe192Cys
XM_011523830.1:c.575T>G XP_011522132.1:p.Phe192Cys
XR_934021.1:n.682T>G
XR_934022.1:n.682T>G
XR_934023.1:n.682T>G
XM_006721516.3:c.575T>G XP_006721579.2:p.Phe192Cys
XM_011523829.2:c.575T>G XP_011522131.1:p.Phe192Cys
XM_011523830.2:c.575T>G XP_011522132.1:p.Phe192Cys
XM_024450741.1:c.575T>G XP_024306509.1:p.Phe192Cys
XR_934021.2:n.634T>G
XR_934022.2:n.634T>G
XR_934023.2:n.634T>G
NM_000018.4:c.575T>G MANE Select NP_000009.1:p.Phe192Cys
NM_001033859.3:c.509T>G NP_001029031.1:p.Phe170Cys
NM_001270447.2:c.644T>G NP_001257376.1:p.Phe215Cys
NM_001270448.2:c.347T>G NP_001257377.1:p.Phe116Cys
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