Canonical Allele Identifier: CA403106855
Gene: PNPLA6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7541025C>A
GRCh37 chr19:g.7605911C>A
Revel Score:
ENST00000221249 0.676
ENST00000545201 0.676
ENST00000414982 0.676
ENST00000544207 0.676
ENST00000450331 0.676
gnomAD v4:
chr19-7541025-C-A
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV001059737
ClinVar Variation:
854646
dbSNP:
1057518936
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7541025C>A , CM000681.2:g.7541025C>A GRCh38
NC_000019.9:g.7605911C>A , CM000681.1:g.7605911C>A GRCh37
NC_000019.8:g.7511911C>A NCBI36
NG_013374.1:g.11874C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.898C>A MANE Select ENSP00000473211.1:p.Pro300Thr
ENST00000221249.10:c.781C>A ENSP00000221249.5:p.Pro261Thr
ENST00000414982.7:c.925C>A ENSP00000407509.2:p.Pro309Thr
ENST00000450331.7:c.781C>A ENSP00000394348.2:p.Pro261Thr
ENST00000545201.6:c.781C>A ENSP00000443323.1:p.Pro261Thr
ENST00000594551.1:c.356C>A
ENST00000595264.5:c.420C>A
ENST00000600737.5:c.898C>A ENSP00000473211.1:p.Pro300Thr
NM_001166111.1:c.925C>A NP_001159583.1:p.Pro309Thr
NM_001166112.1:c.781C>A NP_001159584.1:p.Pro261Thr
NM_001166113.1:c.781C>A NP_001159585.1:p.Pro261Thr
NM_001166114.1:c.898C>A NP_001159586.1:p.Pro300Thr
NM_006702.4:c.781C>A NP_006693.3:p.Pro261Thr
NM_001166111.2:c.925C>A NP_001159583.1:p.Pro309Thr
NM_001166114.2:c.898C>A MANE Select NP_001159586.1:p.Pro300Thr
NM_006702.5:c.781C>A NP_006693.3:p.Pro261Thr
NM_001166112.2:c.781C>A NP_001159584.1:p.Pro261Thr
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