Canonical Allele Identifier: CA411860224

Gene: PNPLA3

Linked Data

• dbSNP Id: rs2049942940
• MyVariant Identifiers: chr22:g.44324765G>T (hg19) ; chr22:g.43928885G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928885G>T , CM000684.2:g.43928885G>T	GRCh38
NC_000022.10:g.44324765G>T , CM000684.1:g.44324765G>T	GRCh37
NC_000022.9:g.42656098G>T	NCBI36
NG_008631.1:g.10147G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.482G>T MANE Select	ENSP00000216180.3:p.Gly161Val
ENST00000216180.7:c.482G>T	ENSP00000216180.3:p.Gly161Val
ENST00000406117.6:c.*114G>T	ENSP00000384668.2:n.*114G>T
ENST00000423180.2:c.470G>T	ENSP00000397987.2:p.Gly157Val
ENST00000478713.1:n.516G>T
NM_025225.2:c.482G>T	NP_079501.2:p.Gly161Val
NM_025225.3:c.482G>T MANE Select	NP_079501.2:p.Gly161Val