Canonical Allele Identifier: CA514856664

Gene: PNPLA3

Linked Data

• MyVariant Identifiers: chr22:g.44324754T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928874T>G , CM000684.2:g.43928874T>G	GRCh38
NC_000022.10:g.44324754T>G , CM000684.1:g.44324754T>G	GRCh37
NC_000022.9:g.42656087T>G	NCBI36
NG_008631.1:g.10136T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.471T>G MANE Select	ENSP00000216180.3:p.Pro157=
ENST00000216180.7:c.471T>G	ENSP00000216180.3:p.Pro157=
ENST00000406117.6:c.*103T>G	ENSP00000384668.2:n.*103T>G
ENST00000423180.2:c.459T>G	ENSP00000397987.2:p.Pro153=
ENST00000478713.1:n.505T>G
NM_025225.2:c.471T>G	NP_079501.2:p.Pro157=
NM_025225.3:c.471T>G MANE Select	NP_079501.2:p.Pro157=