Canonical Allele Identifier: CA16043120
Gene: PNPLA6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7558970G>A
GRCh37 chr19:g.7623856G>A
Revel Score:
ENST00000221249 0.511
ENST00000545201 0.511
ENST00000414982 0.511
ENST00000450331 0.511
gnomAD v2:
19:7623856 G / A
gnomAD v3:
19:7558970 G / A
gnomAD v4:
chr19-7558970-G-A
Joint Max Group AF 0.00000878 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0000081 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7558970G>A , CM000681.2:g.7558970G>A GRCh38
NC_000019.9:g.7623856G>A , CM000681.1:g.7623856G>A GRCh37
NC_000019.8:g.7529856G>A NCBI36
NG_013374.1:g.29819G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.3518G>A MANE Select ENSP00000473211.1:p.Arg1173Gln
ENST00000221249.10:c.3404G>A ENSP00000221249.5:p.Arg1135Gln
ENST00000414982.7:c.3548G>A ENSP00000407509.2:p.Arg1183Gln
ENST00000450331.7:c.3404G>A ENSP00000394348.2:p.Arg1135Gln
ENST00000545201.6:c.3323G>A ENSP00000443323.1:p.Arg1108Gln
ENST00000599947.1:c.4G>A
ENST00000600737.5:c.3518G>A ENSP00000473211.1:p.Arg1173Gln
NM_001166111.1:c.3548G>A NP_001159583.1:p.Arg1183Gln
NM_001166112.1:c.3323G>A NP_001159584.1:p.Arg1108Gln
NM_001166113.1:c.3404G>A NP_001159585.1:p.Arg1135Gln
NM_001166114.1:c.3518G>A NP_001159586.1:p.Arg1173Gln
NM_006702.4:c.3404G>A NP_006693.3:p.Arg1135Gln
NM_001166111.2:c.3548G>A NP_001159583.1:p.Arg1183Gln
NM_001166114.2:c.3518G>A MANE Select NP_001159586.1:p.Arg1173Gln
NM_006702.5:c.3404G>A NP_006693.3:p.Arg1135Gln
NM_001166112.2:c.3323G>A NP_001159584.1:p.Arg1108Gln
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