Canonical Allele Identifier: CA403133910
Gene: PNPLA6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7557242G>C
GRCh37 chr19:g.7622128G>C
Revel Score:
ENST00000221249 0.844
ENST00000545201 0.844
ENST00000414982 0.844
ENST00000450331 0.844
gnomAD v4:
chr19-7557242-G-C
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV002015442
ClinVar Variation:
1496092
dbSNP:
773955314
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7557242G>C , CM000681.2:g.7557242G>C GRCh38
NC_000019.9:g.7622128G>C , CM000681.1:g.7622128G>C GRCh37
NC_000019.8:g.7528128G>C NCBI36
NG_013374.1:g.28091G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.3355G>C MANE Select ENSP00000473211.1:p.Gly1119Arg
ENST00000646984.1:c.568+160G>C ENSP00000496219.1:n.568+160G>C
ENST00000221249.10:c.3241G>C ENSP00000221249.5:p.Gly1081Arg
ENST00000414982.7:c.3385G>C ENSP00000407509.2:p.Gly1129Arg
ENST00000450331.7:c.3241G>C ENSP00000394348.2:p.Gly1081Arg
ENST00000545201.6:c.3160G>C ENSP00000443323.1:p.Gly1054Arg
ENST00000595352.1:n.286G>C
ENST00000600737.5:c.3355G>C ENSP00000473211.1:p.Gly1119Arg
NM_001166111.1:c.3385G>C NP_001159583.1:p.Gly1129Arg
NM_001166112.1:c.3160G>C NP_001159584.1:p.Gly1054Arg
NM_001166113.1:c.3241G>C NP_001159585.1:p.Gly1081Arg
NM_001166114.1:c.3355G>C NP_001159586.1:p.Gly1119Arg
NM_006702.4:c.3241G>C NP_006693.3:p.Gly1081Arg
NM_001166111.2:c.3385G>C NP_001159583.1:p.Gly1129Arg
NM_001166114.2:c.3355G>C MANE Select NP_001159586.1:p.Gly1119Arg
NM_006702.5:c.3241G>C NP_006693.3:p.Gly1081Arg
NM_001166112.2:c.3160G>C NP_001159584.1:p.Gly1054Arg
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