Canonical Allele Identifier: CA2407489700

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946296C= , CM000684.2:g.43946296C=	GRCh38
NC_000022.10:g.44342176C= , CM000684.1:g.44342176C=	GRCh37
NC_000022.9:g.42673509C=	NCBI36
NG_008631.1:g.27558C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000216180.8:c.1360C= MANE Select	ENSP00000216180.3:p.Leu454=
ENST00000216180.7:c.1360C=	ENSP00000216180.3:p.Leu454=
ENST00000406117.6:c.*849+1501C=	ENSP00000384668.2:n.*849+1501C=
ENST00000423180.2:c.1348C=	ENSP00000397987.2:p.Leu450=
NM_025225.2:c.1360C=	NP_079501.2:p.Leu454=
NM_025225.3:c.1360C= MANE Select	NP_079501.2:p.Leu454=