Canonical Allele Identifier: CA397724257
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2262009
ClinVar RCV Id: RCV002773468 RCV003497962
dbSNP Id: rs2071296765
gnomAD v4: 17-7222846-G-A
MyVariant Identifiers: chr17:g.7126165G>A (hg19) chr17:g.7222846G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222846G>A , CM000679.2:g.7222846G>A GRCh38
NC_000017.10:g.7126165G>A , CM000679.1:g.7126165G>A GRCh37
NC_000017.9:g.7066889G>A NCBI36
NG_007975.1:g.8013G>A
NG_008391.2:g.2205C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1058G>A MANE Select ENSP00000349297.5:p.Arg353Lys
ENST00000322910.9:c.*1013G>A ENSP00000325395.5:n.*1013G>A
ENST00000350303.9:c.992G>A ENSP00000344152.5:p.Arg331Lys
ENST00000356839.9:c.1058G>A ENSP00000349297.5:p.Arg353Lys
ENST00000543245.6:c.1127G>A ENSP00000438689.2:p.Arg376Lys
ENST00000578824.5:n.207G>A
ENST00000582379.1:n.442G>A
ENST00000583858.5:c.87G>A
NM_000018.3:c.1058G>A NP_000009.1:p.Arg353Lys
NM_001033859.2:c.992G>A NP_001029031.1:p.Arg331Lys
NM_001270447.1:c.1127G>A NP_001257376.1:p.Arg376Lys
NM_001270448.1:c.830G>A NP_001257377.1:p.Arg277Lys
XM_006721516.2:c.1058G>A XP_006721579.2:p.Arg353Lys
XM_011523829.1:c.1058G>A XP_011522131.1:p.Arg353Lys
XM_011523830.1:c.1058G>A XP_011522132.1:p.Arg353Lys
XR_934021.1:n.1165G>A
XR_934022.1:n.1165G>A
XR_934023.1:n.1165G>A
XM_006721516.3:c.1058G>A XP_006721579.2:p.Arg353Lys
XM_011523829.2:c.1058G>A XP_011522131.1:p.Arg353Lys
XM_011523830.2:c.1058G>A XP_011522132.1:p.Arg353Lys
XM_024450741.1:c.1058G>A XP_024306509.1:p.Arg353Lys
XR_934021.2:n.1117G>A
XR_934022.2:n.1117G>A
XR_934023.2:n.1117G>A
NM_000018.4:c.1058G>A MANE Select NP_000009.1:p.Arg353Lys
NM_001033859.3:c.992G>A NP_001029031.1:p.Arg331Lys
NM_001270447.2:c.1127G>A NP_001257376.1:p.Arg376Lys
NM_001270448.2:c.830G>A NP_001257377.1:p.Arg277Lys
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