Canonical Allele Identifier: CA9140064
Gene: PNPLA6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7553973G>A
GRCh37 chr19:g.7618859G>A
Revel Score:
ENST00000221249 0.092
ENST00000545201 0.092
ENST00000414982 0.092
ENST00000450331 0.092
gnomAD v2:
19:7618859 G / A
gnomAD v3:
19:7553973 G / A
gnomAD v4:
chr19-7553973-G-A
Joint Max Group AF 0.00253744 (NFE)
Genomes Max Group AF 0.00248162 (NFE)
Exomes Max Group AF 0.00252373 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7553973G>A , CM000681.2:g.7553973G>A GRCh38
NC_000019.9:g.7618859G>A , CM000681.1:g.7618859G>A GRCh37
NC_000019.8:g.7524859G>A NCBI36
NG_013374.1:g.24822G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.2359G>A MANE Select ENSP00000473211.1:p.Val787Met
ENST00000221249.10:c.2245G>A ENSP00000221249.5:p.Val749Met
ENST00000414982.7:c.2389G>A ENSP00000407509.2:p.Val797Met
ENST00000450331.7:c.2245G>A ENSP00000394348.2:p.Val749Met
ENST00000545201.6:c.2164G>A ENSP00000443323.1:p.Val722Met
ENST00000599951.1:n.457G>A
ENST00000600737.5:c.2359G>A ENSP00000473211.1:p.Val787Met
NM_001166111.1:c.2389G>A NP_001159583.1:p.Val797Met
NM_001166112.1:c.2164G>A NP_001159584.1:p.Val722Met
NM_001166113.1:c.2245G>A NP_001159585.1:p.Val749Met
NM_001166114.1:c.2359G>A NP_001159586.1:p.Val787Met
NM_006702.4:c.2245G>A NP_006693.3:p.Val749Met
NM_001166111.2:c.2389G>A NP_001159583.1:p.Val797Met
NM_001166114.2:c.2359G>A MANE Select NP_001159586.1:p.Val787Met
NM_006702.5:c.2245G>A NP_006693.3:p.Val749Met
NM_001166112.2:c.2164G>A NP_001159584.1:p.Val722Met
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