Canonical Allele Identifier: CA397723380
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1725290
ClinVar RCV Id: RCV002308349
MyVariant Identifiers: chr17:g.7125293T>A (hg19) chr17:g.7221974T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221974T>A , CM000679.2:g.7221974T>A GRCh38
NC_000017.10:g.7125293T>A , CM000679.1:g.7125293T>A GRCh37
NC_000017.9:g.7066017T>A NCBI36
NG_007975.1:g.7141T>A
NG_008391.2:g.3077A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.645T>A MANE Select ENSP00000349297.5:p.Cys215Ter
ENST00000322910.9:c.*600T>A ENSP00000325395.5:n.*600T>A
ENST00000350303.9:c.579T>A ENSP00000344152.5:p.Cys193Ter
ENST00000356839.9:c.645T>A ENSP00000349297.5:p.Cys215Ter
ENST00000543245.6:c.714T>A ENSP00000438689.2:p.Cys238Ter
ENST00000577191.5:n.722T>A
ENST00000577857.5:n.461T>A
ENST00000579286.5:n.826T>A
ENST00000580365.1:n.376T>A
ENST00000581378.5:c.363T>A
ENST00000581562.5:n.547T>A
ENST00000582379.1:n.29T>A
ENST00000583312.5:c.660T>A ENSP00000467920.1:p.Cys220Ter
ENST00000583760.1:n.427T>A
NM_000018.3:c.645T>A NP_000009.1:p.Cys215Ter
NM_001033859.2:c.579T>A NP_001029031.1:p.Cys193Ter
NM_001270447.1:c.714T>A NP_001257376.1:p.Cys238Ter
NM_001270448.1:c.417T>A NP_001257377.1:p.Cys139Ter
XM_006721516.2:c.645T>A XP_006721579.2:p.Cys215Ter
XM_011523829.1:c.645T>A XP_011522131.1:p.Cys215Ter
XM_011523830.1:c.645T>A XP_011522132.1:p.Cys215Ter
XR_934021.1:n.752T>A
XR_934022.1:n.752T>A
XR_934023.1:n.752T>A
XM_006721516.3:c.645T>A XP_006721579.2:p.Cys215Ter
XM_011523829.2:c.645T>A XP_011522131.1:p.Cys215Ter
XM_011523830.2:c.645T>A XP_011522132.1:p.Cys215Ter
XM_024450741.1:c.645T>A XP_024306509.1:p.Cys215Ter
XR_934021.2:n.704T>A
XR_934022.2:n.704T>A
XR_934023.2:n.704T>A
NM_000018.4:c.645T>A MANE Select NP_000009.1:p.Cys215Ter
NM_001033859.3:c.579T>A NP_001029031.1:p.Cys193Ter
NM_001270447.2:c.714T>A NP_001257376.1:p.Cys238Ter
NM_001270448.2:c.417T>A NP_001257377.1:p.Cys139Ter
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