Canonical Allele Identifier: CA397723377
Gene: ACADVL HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.643T>A MANE Select ENSP00000349297.5:p.Cys215Ser
ENST00000322910.9:c.*598T>A ENSP00000325395.5:n.*598T>A
ENST00000350303.9:c.577T>A ENSP00000344152.5:p.Cys193Ser
ENST00000356839.9:c.643T>A ENSP00000349297.5:p.Cys215Ser
ENST00000543245.6:c.712T>A ENSP00000438689.2:p.Cys238Ser
ENST00000577191.5:n.720T>A
ENST00000577857.5:n.459T>A
ENST00000579286.5:n.824T>A
ENST00000580365.1:n.374T>A
ENST00000581378.5:c.361T>A
ENST00000581562.5:n.545T>A
ENST00000582379.1:n.27T>A
ENST00000583312.5:c.658T>A ENSP00000467920.1:p.Cys220Ser
ENST00000583760.1:n.425T>A
NM_000018.3:c.643T>A NP_000009.1:p.Cys215Ser
NM_001033859.2:c.577T>A NP_001029031.1:p.Cys193Ser
NM_001270447.1:c.712T>A NP_001257376.1:p.Cys238Ser
NM_001270448.1:c.415T>A NP_001257377.1:p.Cys139Ser
XM_006721516.2:c.643T>A XP_006721579.2:p.Cys215Ser
XM_011523829.1:c.643T>A XP_011522131.1:p.Cys215Ser
XM_011523830.1:c.643T>A XP_011522132.1:p.Cys215Ser
XR_934021.1:n.750T>A
XR_934022.1:n.750T>A
XR_934023.1:n.750T>A
XM_006721516.3:c.643T>A XP_006721579.2:p.Cys215Ser
XM_011523829.2:c.643T>A XP_011522131.1:p.Cys215Ser
XM_011523830.2:c.643T>A XP_011522132.1:p.Cys215Ser
XM_024450741.1:c.643T>A XP_024306509.1:p.Cys215Ser
XR_934021.2:n.702T>A
XR_934022.2:n.702T>A
XR_934023.2:n.702T>A
NM_000018.4:c.643T>A MANE Select NP_000009.1:p.Cys215Ser
NM_001033859.3:c.577T>A NP_001029031.1:p.Cys193Ser
NM_001270447.2:c.712T>A NP_001257376.1:p.Cys238Ser
NM_001270448.2:c.415T>A NP_001257377.1:p.Cys139Ser
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