Canonical Allele Identifier: CA2320979340

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560719C= , CM000681.2:g.7560719C=	GRCh38
NC_000019.9:g.7625605C= , CM000681.1:g.7625605C=	GRCh37
NC_000019.8:g.7531605C=	NCBI36
NG_013374.1:g.31568C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3771C= MANE Select	ENSP00000473211.1:p.Leu1257=
ENST00000221249.10:c.3657C=	ENSP00000221249.5:p.Leu1219=
ENST00000414982.7:c.3801C=	ENSP00000407509.2:p.Leu1267=
ENST00000450331.7:c.3657C=	ENSP00000394348.2:p.Leu1219=
ENST00000545201.6:c.3576C=	ENSP00000443323.1:p.Leu1192=
ENST00000597202.1:n.129C=
ENST00000599947.1:c.186-295C=
ENST00000600737.5:c.3771C=	ENSP00000473211.1:p.Leu1257=
NM_001166111.1:c.3801C=	NP_001159583.1:p.Leu1267=
NM_001166112.1:c.3576C=	NP_001159584.1:p.Leu1192=
NM_001166113.1:c.3657C=	NP_001159585.1:p.Leu1219=
NM_001166114.1:c.3771C=	NP_001159586.1:p.Leu1257=
NM_006702.4:c.3657C=	NP_006693.3:p.Leu1219=
NM_001166111.2:c.3801C=	NP_001159583.1:p.Leu1267=
NM_001166114.2:c.3771C= MANE Select	NP_001159586.1:p.Leu1257=
NM_006702.5:c.3657C=	NP_006693.3:p.Leu1219=
NM_001166112.2:c.3576C=	NP_001159584.1:p.Leu1192=