Canonical Allele Identifier: CA397723366
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932796
ClinVar RCV Id: RCV001200744
dbSNP Id: rs2071252145
MyVariant Identifiers: chr17:g.7125286C>T (hg19) chr17:g.7221967C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221967C>T , CM000679.2:g.7221967C>T GRCh38
NC_000017.10:g.7125286C>T , CM000679.1:g.7125286C>T GRCh37
NC_000017.9:g.7066010C>T NCBI36
NG_007975.1:g.7134C>T
NG_008391.2:g.3084G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.638C>T MANE Select ENSP00000349297.5:p.Ala213Val
ENST00000322910.9:c.*593C>T ENSP00000325395.5:n.*593C>T
ENST00000350303.9:c.572C>T ENSP00000344152.5:p.Ala191Val
ENST00000356839.9:c.638C>T ENSP00000349297.5:p.Ala213Val
ENST00000543245.6:c.707C>T ENSP00000438689.2:p.Ala236Val
ENST00000577191.5:n.715C>T
ENST00000577857.5:n.454C>T
ENST00000579286.5:n.819C>T
ENST00000580365.1:n.369C>T
ENST00000581378.5:c.356C>T
ENST00000581562.5:n.540C>T
ENST00000582379.1:n.22C>T
ENST00000583312.5:c.653C>T ENSP00000467920.1:p.Ala218Val
ENST00000583760.1:n.420C>T
NM_000018.3:c.638C>T NP_000009.1:p.Ala213Val
NM_001033859.2:c.572C>T NP_001029031.1:p.Ala191Val
NM_001270447.1:c.707C>T NP_001257376.1:p.Ala236Val
NM_001270448.1:c.410C>T NP_001257377.1:p.Ala137Val
XM_006721516.2:c.638C>T XP_006721579.2:p.Ala213Val
XM_011523829.1:c.638C>T XP_011522131.1:p.Ala213Val
XM_011523830.1:c.638C>T XP_011522132.1:p.Ala213Val
XR_934021.1:n.745C>T
XR_934022.1:n.745C>T
XR_934023.1:n.745C>T
XM_006721516.3:c.638C>T XP_006721579.2:p.Ala213Val
XM_011523829.2:c.638C>T XP_011522131.1:p.Ala213Val
XM_011523830.2:c.638C>T XP_011522132.1:p.Ala213Val
XM_024450741.1:c.638C>T XP_024306509.1:p.Ala213Val
XR_934021.2:n.697C>T
XR_934022.2:n.697C>T
XR_934023.2:n.697C>T
NM_000018.4:c.638C>T MANE Select NP_000009.1:p.Ala213Val
NM_001033859.3:c.572C>T NP_001029031.1:p.Ala191Val
NM_001270447.2:c.707C>T NP_001257376.1:p.Ala236Val
NM_001270448.2:c.410C>T NP_001257377.1:p.Ala137Val
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