Canonical Allele Identifier: CA397724251
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932873
ClinVar RCV Id: RCV001200837
dbSNP Id: rs2071296504
gnomAD v4: 17-7222843-T-G
MyVariant Identifiers: chr17:g.7126162T>G (hg19) chr17:g.7222843T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222843T>G , CM000679.2:g.7222843T>G GRCh38
NC_000017.10:g.7126162T>G , CM000679.1:g.7126162T>G GRCh37
NC_000017.9:g.7066886T>G NCBI36
NG_007975.1:g.8010T>G
NG_008391.2:g.2208A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1055T>G MANE Select ENSP00000349297.5:p.Met352Arg
ENST00000322910.9:c.*1010T>G ENSP00000325395.5:n.*1010T>G
ENST00000350303.9:c.989T>G ENSP00000344152.5:p.Met330Arg
ENST00000356839.9:c.1055T>G ENSP00000349297.5:p.Met352Arg
ENST00000543245.6:c.1124T>G ENSP00000438689.2:p.Met375Arg
ENST00000578824.5:n.204T>G
ENST00000582379.1:n.439T>G
ENST00000583858.5:c.84T>G
NM_000018.3:c.1055T>G NP_000009.1:p.Met352Arg
NM_001033859.2:c.989T>G NP_001029031.1:p.Met330Arg
NM_001270447.1:c.1124T>G NP_001257376.1:p.Met375Arg
NM_001270448.1:c.827T>G NP_001257377.1:p.Met276Arg
XM_006721516.2:c.1055T>G XP_006721579.2:p.Met352Arg
XM_011523829.1:c.1055T>G XP_011522131.1:p.Met352Arg
XM_011523830.1:c.1055T>G XP_011522132.1:p.Met352Arg
XR_934021.1:n.1162T>G
XR_934022.1:n.1162T>G
XR_934023.1:n.1162T>G
XM_006721516.3:c.1055T>G XP_006721579.2:p.Met352Arg
XM_011523829.2:c.1055T>G XP_011522131.1:p.Met352Arg
XM_011523830.2:c.1055T>G XP_011522132.1:p.Met352Arg
XM_024450741.1:c.1055T>G XP_024306509.1:p.Met352Arg
XR_934021.2:n.1114T>G
XR_934022.2:n.1114T>G
XR_934023.2:n.1114T>G
NM_000018.4:c.1055T>G MANE Select NP_000009.1:p.Met352Arg
NM_001033859.3:c.989T>G NP_001029031.1:p.Met330Arg
NM_001270447.2:c.1124T>G NP_001257376.1:p.Met375Arg
NM_001270448.2:c.827T>G NP_001257377.1:p.Met276Arg
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