Canonical Allele Identifier: CA2407489737

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946379G= , CM000684.2:g.43946379G=	GRCh38
NC_000022.10:g.44342259G= , CM000684.1:g.44342259G=	GRCh37
NC_000022.9:g.42673592G=	NCBI36
NG_008631.1:g.27641G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.1443G= MANE Select	ENSP00000216180.3:p.Leu481=
ENST00000216180.7:c.1443G=	ENSP00000216180.3:p.Leu481=
ENST00000406117.6:c.*849+1584G=	ENSP00000384668.2:n.*849+1584G=
ENST00000423180.2:c.1431G=	ENSP00000397987.2:p.Leu477=
NM_025225.2:c.1443G=	NP_079501.2:p.Leu481=
NM_025225.3:c.1443G= MANE Select	NP_079501.2:p.Leu481=