Canonical Allele Identifier: CA515082867
Gene: PNPLA3 HGNC NCBI

Linked Data

COSMIC: COSM5816218
MyVariant Identifiers: chr22:g.44342070A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946190A>G , CM000684.2:g.43946190A>G GRCh38
NC_000022.10:g.44342070A>G , CM000684.1:g.44342070A>G GRCh37
NC_000022.9:g.42673403A>G NCBI36
NG_008631.1:g.27452A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1254A>G MANE Select ENSP00000216180.3:p.Pro418=
ENST00000216180.7:c.1254A>G ENSP00000216180.3:p.Pro418=
ENST00000406117.6:c.*849+1395A>G ENSP00000384668.2:n.*849+1395A>G
ENST00000423180.2:c.1242A>G ENSP00000397987.2:p.Pro414=
NM_025225.2:c.1254A>G NP_079501.2:p.Pro418=
NM_025225.3:c.1254A>G MANE Select NP_079501.2:p.Pro418=
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