Canonical Allele Identifier: CA403134505

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7558864A>T , CM000681.2:g.7558864A>T	GRCh38
NC_000019.9:g.7623750A>T , CM000681.1:g.7623750A>T	GRCh37
NC_000019.8:g.7529750A>T	NCBI36
NG_013374.1:g.29713A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.3412A>T MANE Select	NP_001159586.1:p.Ser1138Cys
ENST00000600737.6:c.3412A>T MANE Select	ENSP00000473211.1:p.Ser1138Cys
NM_001166111.1:c.3442A>T	NP_001159583.1:p.Ser1148Cys
NM_001166111.2:c.3442A>T	NP_001159583.1:p.Ser1148Cys
NM_001166112.1:c.3217A>T	NP_001159584.1:p.Ser1073Cys
NM_001166112.2:c.3217A>T	NP_001159584.1:p.Ser1073Cys
NM_001166113.1:c.3298A>T	NP_001159585.1:p.Ser1100Cys
NM_001166114.1:c.3412A>T	NP_001159586.1:p.Ser1138Cys
NM_006702.4:c.3298A>T	NP_006693.3:p.Ser1100Cys
NM_006702.5:c.3298A>T	NP_006693.3:p.Ser1100Cys
ENST00000221249.10:c.3298A>T	ENSP00000221249.5:p.Ser1100Cys
ENST00000414982.7:c.3442A>T	ENSP00000407509.2:p.Ser1148Cys
ENST00000450331.7:c.3298A>T	ENSP00000394348.2:p.Ser1100Cys
ENST00000545201.6:c.3217A>T	ENSP00000443323.1:p.Ser1073Cys
ENST00000600737.5:c.3412A>T	ENSP00000473211.1:p.Ser1138Cys
ENST00000646984.1:c.583A>T	ENSP00000496219.1:p.Ser195Cys