Canonical Allele Identifier: CA304875569

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7551105C>A , CM000681.2:g.7551105C>A	GRCh38
NC_000019.9:g.7615991C>A , CM000681.1:g.7615991C>A	GRCh37
NC_000019.8:g.7521991C>A	NCBI36
NG_013374.1:g.21954C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.2182C>A MANE Select	NP_001159586.1:p.Gln728Lys
ENST00000600737.6:c.2182C>A MANE Select	ENSP00000473211.1:p.Gln728Lys
NM_001166111.1:c.2209C>A	NP_001159583.1:p.Gln737Lys
NM_001166111.2:c.2209C>A	NP_001159583.1:p.Gln737Lys
NM_001166112.1:c.1987C>A	NP_001159584.1:p.Gln663Lys
NM_001166112.2:c.1987C>A	NP_001159584.1:p.Gln663Lys
NM_001166113.1:c.2065C>A	NP_001159585.1:p.Gln689Lys
NM_001166114.1:c.2182C>A	NP_001159586.1:p.Gln728Lys
NM_006702.4:c.2065C>A	NP_006693.3:p.Gln689Lys
NM_006702.5:c.2065C>A	NP_006693.3:p.Gln689Lys
ENST00000221249.10:c.2065C>A	ENSP00000221249.5:p.Gln689Lys
ENST00000414982.7:c.2209C>A	ENSP00000407509.2:p.Gln737Lys
ENST00000450331.7:c.2065C>A	ENSP00000394348.2:p.Gln689Lys
ENST00000545201.6:c.1987C>A	ENSP00000443323.1:p.Gln663Lys
ENST00000599951.1:n.280C>A
ENST00000600737.5:c.2182C>A	ENSP00000473211.1:p.Gln728Lys