Canonical Allele Identifier: CA411860090

Gene: PNPLA3

Linked Data

• dbSNP Id: rs1405167760
• MyVariant Identifiers: chr22:g.44324704G>T (hg19) ; chr22:g.43928824G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928824G>T , CM000684.2:g.43928824G>T	GRCh38
NC_000022.10:g.44324704G>T , CM000684.1:g.44324704G>T	GRCh37
NC_000022.9:g.42656037G>T	NCBI36
NG_008631.1:g.10086G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421G>T MANE Select	ENSP00000216180.3:p.Ala141Ser
ENST00000216180.7:c.421G>T	ENSP00000216180.3:p.Ala141Ser
ENST00000406117.6:c.*53G>T	ENSP00000384668.2:n.*53G>T
ENST00000423180.2:c.409G>T	ENSP00000397987.2:p.Ala137Ser
ENST00000478713.1:n.455G>T
NM_025225.2:c.421G>T	NP_079501.2:p.Ala141Ser
NM_025225.3:c.421G>T MANE Select	NP_079501.2:p.Ala141Ser