Canonical Allele Identifier: CA397724144
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1483929
ClinVar RCV Id: RCV002003303
dbSNP Id: rs2142980423
gnomAD v4: 17-7222792-A-G
MyVariant Identifiers: chr17:g.7126111A>G (hg19) chr17:g.7222792A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222792A>G , CM000679.2:g.7222792A>G GRCh38
NC_000017.10:g.7126111A>G , CM000679.1:g.7126111A>G GRCh37
NC_000017.9:g.7066835A>G NCBI36
NG_007975.1:g.7959A>G
NG_008391.2:g.2259T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1004A>G MANE Select ENSP00000349297.5:p.His335Arg
ENST00000322910.9:c.*959A>G ENSP00000325395.5:n.*959A>G
ENST00000350303.9:c.938A>G ENSP00000344152.5:p.His313Arg
ENST00000356839.9:c.1004A>G ENSP00000349297.5:p.His335Arg
ENST00000543245.6:c.1073A>G ENSP00000438689.2:p.His358Arg
ENST00000578824.5:n.153A>G
ENST00000581378.5:c.722A>G
ENST00000582379.1:n.388A>G
ENST00000583858.5:c.33A>G
NM_000018.3:c.1004A>G NP_000009.1:p.His335Arg
NM_001033859.2:c.938A>G NP_001029031.1:p.His313Arg
NM_001270447.1:c.1073A>G NP_001257376.1:p.His358Arg
NM_001270448.1:c.776A>G NP_001257377.1:p.His259Arg
XM_006721516.2:c.1004A>G XP_006721579.2:p.His335Arg
XM_011523829.1:c.1004A>G XP_011522131.1:p.His335Arg
XM_011523830.1:c.1004A>G XP_011522132.1:p.His335Arg
XR_934021.1:n.1111A>G
XR_934022.1:n.1111A>G
XR_934023.1:n.1111A>G
XM_006721516.3:c.1004A>G XP_006721579.2:p.His335Arg
XM_011523829.2:c.1004A>G XP_011522131.1:p.His335Arg
XM_011523830.2:c.1004A>G XP_011522132.1:p.His335Arg
XM_024450741.1:c.1004A>G XP_024306509.1:p.His335Arg
XR_934021.2:n.1063A>G
XR_934022.2:n.1063A>G
XR_934023.2:n.1063A>G
NM_000018.4:c.1004A>G MANE Select NP_000009.1:p.His335Arg
NM_001033859.3:c.938A>G NP_001029031.1:p.His313Arg
NM_001270447.2:c.1073A>G NP_001257376.1:p.His358Arg
NM_001270448.2:c.776A>G NP_001257377.1:p.His259Arg
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