Canonical Allele Identifier: CA1265847
Gene: SOAT1 HGNC NCBI
COSMIC:
COSM3997094 (not active)
MyVariant.info:
GRCh38 chr1:g.179351443A>G
GRCh37 chr1:g.179320578A>G
Revel Score:
ENST00000539888 0.057
ENST00000540564 0.057
ENST00000535686 0.057
ENST00000367619 (MANE Select) 0.057
gnomAD v2:
1:179320578 A / G
gnomAD v3:
1:179351443 A / G
gnomAD v4:
chr1-179351443-A-G
Joint Max Group AF 0.33985238 (EAS)
Genomes Max Group AF 0.31948092 (EAS)
Exomes Max Group AF 0.34109831 (EAS)
dbSNP:
13306731
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179351443A>G , CM000663.2:g.179351443A>G GRCh38
NC_000001.10:g.179320578A>G , CM000663.1:g.179320578A>G GRCh37
NC_000001.9:g.177587201A>G NCBI36
NG_030638.1:g.62730A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367619.8:c.1577A>G MANE Select ENSP00000356591.3:p.Gln526Arg
ENST00000367619.7:c.1577A>G ENSP00000356591.3:p.Gln526Arg
ENST00000539888.5:c.1382A>G ENSP00000441356.1:p.Gln461Arg
ENST00000540564.5:c.1403A>G ENSP00000445315.1:p.Gln468Arg
NM_001252511.1:c.1403A>G NP_001239440.1:p.Gln468Arg
NM_001252512.1:c.1382A>G NP_001239441.1:p.Gln461Arg
NM_003101.5:c.1577A>G NP_003092.4:p.Gln526Arg
NR_045530.1:n.1727A>G
XM_011509911.1:c.1577A>G XP_011508213.1:p.Gln526Arg
NM_003101.6:c.1577A>G MANE Select NP_003092.4:p.Gln526Arg
NR_045530.2:n.1644A>G
NM_001252511.2:c.1403A>G NP_001239440.1:p.Gln468Arg
NM_001252512.2:c.1382A>G NP_001239441.1:p.Gln461Arg
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