Canonical Allele Identifier: CA230802
Gene: ACADL HGNC NCBI
COSMIC:
COSM4133423 (not active)
MyVariant.info:
GRCh38 chr2:g.210195326T>G
GRCh37 chr2:g.211060050T>G
Revel Score:
ENST00000233710 (MANE Select) 0.640
gnomAD v2:
2:211060050 T / G
gnomAD v3:
2:210195326 T / G
gnomAD v4:
chr2-210195326-T-G
Joint Max Group AF 0.35206198 (NFE)
Genomes Max Group AF 0.3427882 (NFE)
Exomes Max Group AF 0.35243087 (NFE)
ClinVar RCV:
RCV000115027
ClinVar Variation:
1620
dbSNP:
2286963
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210195326T>G , CM000664.2:g.210195326T>G GRCh38
NC_000002.11:g.211060050T>G , CM000664.1:g.211060050T>G GRCh37
NC_000002.10:g.210768295T>G NCBI36
NG_008002.1:g.35166A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233710.4:c.997A>C MANE Select ENSP00000233710.3:p.Lys333Gln
ENST00000652584.1:n.1225A>C
ENST00000233710.3:c.997A>C ENSP00000233710.3:p.Lys333Gln
NM_001608.3:c.997A>C NP_001599.1:p.Lys333Gln
XM_005246517.3:c.934A>C XP_005246574.1:p.Lys312Gln
XM_005246517.4:c.934A>C XP_005246574.1:p.Lys312Gln
XM_017003955.1:c.574A>C XP_016859444.1:p.Lys192Gln
NM_001608.4:c.997A>C MANE Select NP_001599.1:p.Lys333Gln
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