Canonical Allele Identifier: CA515083211

Gene: PNPLA3

Linked Data

• MyVariant Identifiers: chr22:g.44342136C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946256C>G , CM000684.2:g.43946256C>G	GRCh38
NC_000022.10:g.44342136C>G , CM000684.1:g.44342136C>G	GRCh37
NC_000022.9:g.42673469C>G	NCBI36
NG_008631.1:g.27518C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.1320C>G MANE Select	ENSP00000216180.3:p.Thr440=
ENST00000216180.7:c.1320C>G	ENSP00000216180.3:p.Thr440=
ENST00000406117.6:c.*849+1461C>G	ENSP00000384668.2:n.*849+1461C>G
ENST00000423180.2:c.1308C>G	ENSP00000397987.2:p.Thr436=
NM_025225.2:c.1320C>G	NP_079501.2:p.Thr440=
NM_025225.3:c.1320C>G MANE Select	NP_079501.2:p.Thr440=