Canonical Allele Identifier: CA14942782

Gene: PNPLA3

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928075T>C , CM000684.2:g.43928075T>C	GRCh38
NC_000022.10:g.44323955T>C , CM000684.1:g.44323955T>C	GRCh37
NC_000022.9:g.42655288T>C	NCBI36
NG_008631.1:g.9337T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421-749T>C MANE Select	ENSP00000216180.3:n.421-749T>C
ENST00000216180.7:c.421-749T>C	ENSP00000216180.3:n.421-749T>C
ENST00000406117.6:c.*53-749T>C	ENSP00000384668.2:n.*53-749T>C
ENST00000423180.2:c.409-749T>C	ENSP00000397987.2:n.409-749T>C
ENST00000478713.1:n.455-749T>C
NM_025225.2:c.421-749T>C	NP_079501.2:n.421-749T>C
NM_025225.3:c.421-749T>C MANE Select	NP_079501.2:n.421-749T>C