Canonical Allele Identifier: CA403123269

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7550538C>A , CM000681.2:g.7550538C>A	GRCh38
NC_000019.9:g.7615424C>A , CM000681.1:g.7615424C>A	GRCh37
NC_000019.8:g.7521424C>A	NCBI36
NG_013374.1:g.21387C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.1968C>A MANE Select	NP_001159586.1:p.Cys656Ter
ENST00000600737.6:c.1968C>A MANE Select	ENSP00000473211.1:p.Cys656Ter
NM_001166111.1:c.1995C>A	NP_001159583.1:p.Cys665Ter
NM_001166111.2:c.1995C>A	NP_001159583.1:p.Cys665Ter
NM_001166112.1:c.1773C>A	NP_001159584.1:p.Cys591Ter
NM_001166112.2:c.1773C>A	NP_001159584.1:p.Cys591Ter
NM_001166113.1:c.1851C>A	NP_001159585.1:p.Cys617Ter
NM_001166114.1:c.1968C>A	NP_001159586.1:p.Cys656Ter
NM_006702.4:c.1851C>A	NP_006693.3:p.Cys617Ter
NM_006702.5:c.1851C>A	NP_006693.3:p.Cys617Ter
ENST00000221249.10:c.1851C>A	ENSP00000221249.5:p.Cys617Ter
ENST00000414982.7:c.1995C>A	ENSP00000407509.2:p.Cys665Ter
ENST00000450331.7:c.1851C>A	ENSP00000394348.2:p.Cys617Ter
ENST00000545201.6:c.1773C>A	ENSP00000443323.1:p.Cys591Ter
ENST00000594864.1:n.426C>A
ENST00000600737.5:c.1968C>A	ENSP00000473211.1:p.Cys656Ter