Canonical Allele Identifier: CA397723376
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125291T>G (hg19) chr17:g.7221972T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221972T>G , CM000679.2:g.7221972T>G GRCh38
NC_000017.10:g.7125291T>G , CM000679.1:g.7125291T>G GRCh37
NC_000017.9:g.7066015T>G NCBI36
NG_007975.1:g.7139T>G
NG_008391.2:g.3079A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.643T>G MANE Select ENSP00000349297.5:p.Cys215Gly
ENST00000322910.9:c.*598T>G ENSP00000325395.5:n.*598T>G
ENST00000350303.9:c.577T>G ENSP00000344152.5:p.Cys193Gly
ENST00000356839.9:c.643T>G ENSP00000349297.5:p.Cys215Gly
ENST00000543245.6:c.712T>G ENSP00000438689.2:p.Cys238Gly
ENST00000577191.5:n.720T>G
ENST00000577857.5:n.459T>G
ENST00000579286.5:n.824T>G
ENST00000580365.1:n.374T>G
ENST00000581378.5:c.361T>G
ENST00000581562.5:n.545T>G
ENST00000582379.1:n.27T>G
ENST00000583312.5:c.658T>G ENSP00000467920.1:p.Cys220Gly
ENST00000583760.1:n.425T>G
NM_000018.3:c.643T>G NP_000009.1:p.Cys215Gly
NM_001033859.2:c.577T>G NP_001029031.1:p.Cys193Gly
NM_001270447.1:c.712T>G NP_001257376.1:p.Cys238Gly
NM_001270448.1:c.415T>G NP_001257377.1:p.Cys139Gly
XM_006721516.2:c.643T>G XP_006721579.2:p.Cys215Gly
XM_011523829.1:c.643T>G XP_011522131.1:p.Cys215Gly
XM_011523830.1:c.643T>G XP_011522132.1:p.Cys215Gly
XR_934021.1:n.750T>G
XR_934022.1:n.750T>G
XR_934023.1:n.750T>G
XM_006721516.3:c.643T>G XP_006721579.2:p.Cys215Gly
XM_011523829.2:c.643T>G XP_011522131.1:p.Cys215Gly
XM_011523830.2:c.643T>G XP_011522132.1:p.Cys215Gly
XM_024450741.1:c.643T>G XP_024306509.1:p.Cys215Gly
XR_934021.2:n.702T>G
XR_934022.2:n.702T>G
XR_934023.2:n.702T>G
NM_000018.4:c.643T>G MANE Select NP_000009.1:p.Cys215Gly
NM_001033859.3:c.577T>G NP_001029031.1:p.Cys193Gly
NM_001270447.2:c.712T>G NP_001257376.1:p.Cys238Gly
NM_001270448.2:c.415T>G NP_001257377.1:p.Cys139Gly
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