Canonical Allele Identifier: CA285287
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 92270
dbSNP Id: rs398123079
gnomAD v2: 17-7126108-T-G
gnomAD v3: 17-7222789-T-G
gnomAD v4: 17-7222789-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222789T>G , CM000679.2:g.7222789T>G GRCh38
NC_000017.10:g.7126108T>G , CM000679.1:g.7126108T>G GRCh37
NC_000017.9:g.7066832T>G NCBI36
NG_007975.1:g.7956T>G
NG_008391.2:g.2262A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1001T>G MANE Select ENSP00000349297.5:p.Met334Arg
ENST00000322910.9:c.*956T>G ENSP00000325395.5:n.*956T>G
ENST00000350303.9:c.935T>G ENSP00000344152.5:p.Met312Arg
ENST00000356839.9:c.1001T>G ENSP00000349297.5:p.Met334Arg
ENST00000543245.6:c.1070T>G ENSP00000438689.2:p.Met357Arg
ENST00000578824.5:n.150T>G
ENST00000581378.5:c.719T>G
ENST00000582379.1:n.385T>G
ENST00000583858.5:c.30T>G
NM_000018.3:c.1001T>G NP_000009.1:p.Met334Arg
NM_001033859.2:c.935T>G NP_001029031.1:p.Met312Arg
NM_001270447.1:c.1070T>G NP_001257376.1:p.Met357Arg
NM_001270448.1:c.773T>G NP_001257377.1:p.Met258Arg
XM_006721516.2:c.1001T>G XP_006721579.2:p.Met334Arg
XM_011523829.1:c.1001T>G XP_011522131.1:p.Met334Arg
XM_011523830.1:c.1001T>G XP_011522132.1:p.Met334Arg
XR_934021.1:n.1108T>G
XR_934022.1:n.1108T>G
XR_934023.1:n.1108T>G
XM_006721516.3:c.1001T>G XP_006721579.2:p.Met334Arg
XM_011523829.2:c.1001T>G XP_011522131.1:p.Met334Arg
XM_011523830.2:c.1001T>G XP_011522132.1:p.Met334Arg
XM_024450741.1:c.1001T>G XP_024306509.1:p.Met334Arg
XR_934021.2:n.1060T>G
XR_934022.2:n.1060T>G
XR_934023.2:n.1060T>G
NM_000018.4:c.1001T>G MANE Select NP_000009.1:p.Met334Arg
NM_001033859.3:c.935T>G NP_001029031.1:p.Met312Arg
NM_001270447.2:c.1070T>G NP_001257376.1:p.Met357Arg
NM_001270448.2:c.773T>G NP_001257377.1:p.Met258Arg