Canonical Allele Identifier: CA397723392
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932797
ClinVar RCV Id: RCV001200745
dbSNP Id: rs2071252808
MyVariant Identifiers: chr17:g.7125298C>T (hg19) chr17:g.7221979C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221979C>T , CM000679.2:g.7221979C>T GRCh38
NC_000017.10:g.7125298C>T , CM000679.1:g.7125298C>T GRCh37
NC_000017.9:g.7066022C>T NCBI36
NG_007975.1:g.7146C>T
NG_008391.2:g.3072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.650C>T MANE Select ENSP00000349297.5:p.Thr217Ile
ENST00000322910.9:c.*605C>T ENSP00000325395.5:n.*605C>T
ENST00000350303.9:c.584C>T ENSP00000344152.5:p.Thr195Ile
ENST00000356839.9:c.650C>T ENSP00000349297.5:p.Thr217Ile
ENST00000543245.6:c.719C>T ENSP00000438689.2:p.Thr240Ile
ENST00000577191.5:n.727C>T
ENST00000577857.5:n.466C>T
ENST00000579286.5:n.831C>T
ENST00000580365.1:n.381C>T
ENST00000581378.5:c.368C>T
ENST00000581562.5:n.552C>T
ENST00000582379.1:n.34C>T
ENST00000583312.5:c.665C>T ENSP00000467920.1:p.Thr222Ile
ENST00000583760.1:n.432C>T
NM_000018.3:c.650C>T NP_000009.1:p.Thr217Ile
NM_001033859.2:c.584C>T NP_001029031.1:p.Thr195Ile
NM_001270447.1:c.719C>T NP_001257376.1:p.Thr240Ile
NM_001270448.1:c.422C>T NP_001257377.1:p.Thr141Ile
XM_006721516.2:c.650C>T XP_006721579.2:p.Thr217Ile
XM_011523829.1:c.650C>T XP_011522131.1:p.Thr217Ile
XM_011523830.1:c.650C>T XP_011522132.1:p.Thr217Ile
XR_934021.1:n.757C>T
XR_934022.1:n.757C>T
XR_934023.1:n.757C>T
XM_006721516.3:c.650C>T XP_006721579.2:p.Thr217Ile
XM_011523829.2:c.650C>T XP_011522131.1:p.Thr217Ile
XM_011523830.2:c.650C>T XP_011522132.1:p.Thr217Ile
XM_024450741.1:c.650C>T XP_024306509.1:p.Thr217Ile
XR_934021.2:n.709C>T
XR_934022.2:n.709C>T
XR_934023.2:n.709C>T
NM_000018.4:c.650C>T MANE Select NP_000009.1:p.Thr217Ile
NM_001033859.3:c.584C>T NP_001029031.1:p.Thr195Ile
NM_001270447.2:c.719C>T NP_001257376.1:p.Thr240Ile
NM_001270448.2:c.422C>T NP_001257377.1:p.Thr141Ile
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