Canonical Allele Identifier: CA397723940
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932760
ClinVar RCV Id: RCV001200700
dbSNP Id: rs2071288448
MyVariant Identifiers: chr17:g.7126011A>T (hg19) chr17:g.7222692A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222692A>T , CM000679.2:g.7222692A>T GRCh38
NC_000017.10:g.7126011A>T , CM000679.1:g.7126011A>T GRCh37
NC_000017.9:g.7066735A>T NCBI36
NG_007975.1:g.7859A>T
NG_008391.2:g.2359T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.904A>T MANE Select ENSP00000349297.5:p.Ile302Phe
ENST00000322910.9:c.*859A>T ENSP00000325395.5:n.*859A>T
ENST00000350303.9:c.838A>T ENSP00000344152.5:p.Ile280Phe
ENST00000356839.9:c.904A>T ENSP00000349297.5:p.Ile302Phe
ENST00000543245.6:c.973A>T ENSP00000438689.2:p.Ile325Phe
ENST00000578824.5:n.53A>T
ENST00000581378.5:c.622A>T
ENST00000582379.1:n.288A>T
NM_000018.3:c.904A>T NP_000009.1:p.Ile302Phe
NM_001033859.2:c.838A>T NP_001029031.1:p.Ile280Phe
NM_001270447.1:c.973A>T NP_001257376.1:p.Ile325Phe
NM_001270448.1:c.676A>T NP_001257377.1:p.Ile226Phe
XM_006721516.2:c.904A>T XP_006721579.2:p.Ile302Phe
XM_011523829.1:c.904A>T XP_011522131.1:p.Ile302Phe
XM_011523830.1:c.904A>T XP_011522132.1:p.Ile302Phe
XR_934021.1:n.1011A>T
XR_934022.1:n.1011A>T
XR_934023.1:n.1011A>T
XM_006721516.3:c.904A>T XP_006721579.2:p.Ile302Phe
XM_011523829.2:c.904A>T XP_011522131.1:p.Ile302Phe
XM_011523830.2:c.904A>T XP_011522132.1:p.Ile302Phe
XM_024450741.1:c.904A>T XP_024306509.1:p.Ile302Phe
XR_934021.2:n.963A>T
XR_934022.2:n.963A>T
XR_934023.2:n.963A>T
NM_000018.4:c.904A>T MANE Select NP_000009.1:p.Ile302Phe
NM_001033859.3:c.838A>T NP_001029031.1:p.Ile280Phe
NM_001270447.2:c.973A>T NP_001257376.1:p.Ile325Phe
NM_001270448.2:c.676A>T NP_001257377.1:p.Ile226Phe
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