Canonical Allele Identifier: CA9140262
Gene: PNPLA6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7555353C>A
GRCh37 chr19:g.7620239C>A
gnomAD v2:
19:7620239 C / A
gnomAD v3:
19:7555353 C / A
gnomAD v4:
chr19-7555353-C-A
Joint Max Group AF 0.00008315 (SAS)
Genomes Max Group AF 0.00000531 (NFE)
Exomes Max Group AF 0.0000885 (SAS)
ClinVar RCV:
RCV000369978
ClinVar Variation:
330531
dbSNP:
767028461
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7555353C>A , CM000681.2:g.7555353C>A GRCh38
NC_000019.9:g.7620239C>A , CM000681.1:g.7620239C>A GRCh37
NC_000019.8:g.7526239C>A NCBI36
NG_013374.1:g.26202C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.2922C>A MANE Select ENSP00000473211.1:p.Gly974=
ENST00000646984.1:c.93C>A ENSP00000496219.1:p.Gly31=
ENST00000221249.10:c.2808C>A ENSP00000221249.5:p.Gly936=
ENST00000414982.7:c.2952C>A ENSP00000407509.2:p.Gly984=
ENST00000450331.7:c.2808C>A ENSP00000394348.2:p.Gly936=
ENST00000545201.6:c.2727C>A ENSP00000443323.1:p.Gly909=
ENST00000600737.5:c.2922C>A ENSP00000473211.1:p.Gly974=
NM_001166111.1:c.2952C>A NP_001159583.1:p.Gly984=
NM_001166112.1:c.2727C>A NP_001159584.1:p.Gly909=
NM_001166113.1:c.2808C>A NP_001159585.1:p.Gly936=
NM_001166114.1:c.2922C>A NP_001159586.1:p.Gly974=
NM_006702.4:c.2808C>A NP_006693.3:p.Gly936=
NM_001166111.2:c.2952C>A NP_001159583.1:p.Gly984=
NM_001166114.2:c.2922C>A MANE Select NP_001159586.1:p.Gly974=
NM_006702.5:c.2808C>A NP_006693.3:p.Gly936=
NM_001166112.2:c.2727C>A NP_001159584.1:p.Gly909=
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