Canonical Allele Identifier: CA411860163

Gene: PNPLA3

Linked Data

• dbSNP Id: rs2146776516
• MyVariant Identifiers: chr22:g.44324736C>G (hg19) ; chr22:g.43928856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928856C>G , CM000684.2:g.43928856C>G	GRCh38
NC_000022.10:g.44324736C>G , CM000684.1:g.44324736C>G	GRCh37
NC_000022.9:g.42656069C>G	NCBI36
NG_008631.1:g.10118C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.453C>G MANE Select	ENSP00000216180.3:p.Tyr151Ter
ENST00000216180.7:c.453C>G	ENSP00000216180.3:p.Tyr151Ter
ENST00000406117.6:c.*85C>G	ENSP00000384668.2:n.*85C>G
ENST00000423180.2:c.441C>G	ENSP00000397987.2:p.Tyr147Ter
ENST00000478713.1:n.487C>G
NM_025225.2:c.453C>G	NP_079501.2:p.Tyr151Ter
NM_025225.3:c.453C>G MANE Select	NP_079501.2:p.Tyr151Ter