Canonical Allele Identifier: CA2320976394
Gene: PNPLA6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7555011G= , CM000681.2:g.7555011G= GRCh38
NC_000019.9:g.7619897G= , CM000681.1:g.7619897G= GRCh37
NC_000019.8:g.7525897G= NCBI36
NG_013374.1:g.25860G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.2753G= MANE Select ENSP00000473211.1:p.Cys918=
ENST00000221249.10:c.2639G= ENSP00000221249.5:p.Cys880=
ENST00000414982.7:c.2783G= ENSP00000407509.2:p.Cys928=
ENST00000450331.7:c.2639G= ENSP00000394348.2:p.Cys880=
ENST00000545201.6:c.2558G= ENSP00000443323.1:p.Cys853=
ENST00000600737.5:c.2753G= ENSP00000473211.1:p.Cys918=
NM_001166111.1:c.2783G= NP_001159583.1:p.Cys928=
NM_001166112.1:c.2558G= NP_001159584.1:p.Cys853=
NM_001166113.1:c.2639G= NP_001159585.1:p.Cys880=
NM_001166114.1:c.2753G= NP_001159586.1:p.Cys918=
NM_006702.4:c.2639G= NP_006693.3:p.Cys880=
NM_001166111.2:c.2783G= NP_001159583.1:p.Cys928=
NM_001166114.2:c.2753G= MANE Select NP_001159586.1:p.Cys918=
NM_006702.5:c.2639G= NP_006693.3:p.Cys880=
NM_001166112.2:c.2558G= NP_001159584.1:p.Cys853=