Canonical Allele Identifier: CA411860161

Gene: PNPLA3

Linked Data

• dbSNP Id: rs2146776512
• MyVariant Identifiers: chr22:g.44324735A>T (hg19) ; chr22:g.43928855A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928855A>T , CM000684.2:g.43928855A>T	GRCh38
NC_000022.10:g.44324735A>T , CM000684.1:g.44324735A>T	GRCh37
NC_000022.9:g.42656068A>T	NCBI36
NG_008631.1:g.10117A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.452A>T MANE Select	ENSP00000216180.3:p.Tyr151Phe
ENST00000216180.7:c.452A>T	ENSP00000216180.3:p.Tyr151Phe
ENST00000406117.6:c.*84A>T	ENSP00000384668.2:n.*84A>T
ENST00000423180.2:c.440A>T	ENSP00000397987.2:p.Tyr147Phe
ENST00000478713.1:n.486A>T
NM_025225.2:c.452A>T	NP_079501.2:p.Tyr151Phe
NM_025225.3:c.452A>T MANE Select	NP_079501.2:p.Tyr151Phe