Canonical Allele Identifier: CA397723052
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1046196
ClinVar RCV Id: RCV001350718
dbSNP Id: rs1382262076

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221566T>G , CM000679.2:g.7221566T>G GRCh38
NC_000017.10:g.7124885T>G , CM000679.1:g.7124885T>G GRCh37
NC_000017.9:g.7065609T>G NCBI36
NG_007975.1:g.6733T>G
NG_008391.2:g.3485A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.506T>G MANE Select ENSP00000349297.5:p.Met169Arg
ENST00000322910.9:c.*461T>G ENSP00000325395.5:n.*461T>G
ENST00000350303.9:c.440T>G ENSP00000344152.5:p.Met147Arg
ENST00000356839.9:c.506T>G ENSP00000349297.5:p.Met169Arg
ENST00000543245.6:c.575T>G ENSP00000438689.2:p.Met192Arg
ENST00000577191.5:n.583T>G
ENST00000577433.5:n.714T>G
ENST00000577857.5:n.322T>G
ENST00000579286.5:n.687T>G
ENST00000579886.2:c.344T>G ENSP00000463246.1:p.Met115Arg
ENST00000580365.1:n.237T>G
ENST00000581378.5:c.224T>G
ENST00000581562.5:n.525-386T>G
ENST00000582166.1:n.487T>G
ENST00000583312.5:c.506T>G ENSP00000467920.1:p.Met169Arg
ENST00000583760.1:n.288T>G
NM_000018.3:c.506T>G NP_000009.1:p.Met169Arg
NM_001033859.2:c.440T>G NP_001029031.1:p.Met147Arg
NM_001270447.1:c.575T>G NP_001257376.1:p.Met192Arg
NM_001270448.1:c.278T>G NP_001257377.1:p.Met93Arg
XM_006721516.2:c.506T>G XP_006721579.2:p.Met169Arg
XM_011523829.1:c.506T>G XP_011522131.1:p.Met169Arg
XM_011523830.1:c.506T>G XP_011522132.1:p.Met169Arg
XR_934021.1:n.613T>G
XR_934022.1:n.613T>G
XR_934023.1:n.613T>G
XM_006721516.3:c.506T>G XP_006721579.2:p.Met169Arg
XM_011523829.2:c.506T>G XP_011522131.1:p.Met169Arg
XM_011523830.2:c.506T>G XP_011522132.1:p.Met169Arg
XM_024450741.1:c.506T>G XP_024306509.1:p.Met169Arg
XR_934021.2:n.565T>G
XR_934022.2:n.565T>G
XR_934023.2:n.565T>G
NM_000018.4:c.506T>G MANE Select NP_000009.1:p.Met169Arg
NM_001033859.3:c.440T>G NP_001029031.1:p.Met147Arg
NM_001270447.2:c.575T>G NP_001257376.1:p.Met192Arg
NM_001270448.2:c.278T>G NP_001257377.1:p.Met93Arg