Canonical Allele Identifier: CA2320979331

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560690A= , CM000681.2:g.7560690A=	GRCh38
NC_000019.9:g.7625576A= , CM000681.1:g.7625576A=	GRCh37
NC_000019.8:g.7531576A=	NCBI36
NG_013374.1:g.31539A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3742A= MANE Select	ENSP00000473211.1:p.Ser1248=
ENST00000221249.10:c.3628A=	ENSP00000221249.5:p.Ser1210=
ENST00000414982.7:c.3772A=	ENSP00000407509.2:p.Ser1258=
ENST00000450331.7:c.3628A=	ENSP00000394348.2:p.Ser1210=
ENST00000545201.6:c.3547A=	ENSP00000443323.1:p.Ser1183=
ENST00000597202.1:n.100A=
ENST00000599947.1:c.186-324A=
ENST00000600737.5:c.3742A=	ENSP00000473211.1:p.Ser1248=
NM_001166111.1:c.3772A=	NP_001159583.1:p.Ser1258=
NM_001166112.1:c.3547A=	NP_001159584.1:p.Ser1183=
NM_001166113.1:c.3628A=	NP_001159585.1:p.Ser1210=
NM_001166114.1:c.3742A=	NP_001159586.1:p.Ser1248=
NM_006702.4:c.3628A=	NP_006693.3:p.Ser1210=
NM_001166111.2:c.3772A=	NP_001159583.1:p.Ser1258=
NM_001166114.2:c.3742A= MANE Select	NP_001159586.1:p.Ser1248=
NM_006702.5:c.3628A=	NP_006693.3:p.Ser1210=
NM_001166112.2:c.3547A=	NP_001159584.1:p.Ser1183=