Canonical Allele Identifier: CA403138400
Gene: PNPLA6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7561044G>T , CM000681.2:g.7561044G>T GRCh38
NC_000019.9:g.7625930G>T , CM000681.1:g.7625930G>T GRCh37
NC_000019.8:g.7531930G>T NCBI36
NG_013374.1:g.31893G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.3847G>T MANE Select ENSP00000473211.1:p.Asp1283Tyr
ENST00000221249.10:c.3733G>T ENSP00000221249.5:p.Asp1245Tyr
ENST00000414982.7:c.3877G>T ENSP00000407509.2:p.Asp1293Tyr
ENST00000450331.7:c.3733G>T ENSP00000394348.2:p.Asp1245Tyr
ENST00000545201.6:c.3652G>T ENSP00000443323.1:p.Asp1218Tyr
ENST00000597202.1:n.205G>T
ENST00000599947.1:c.216G>T
ENST00000600737.5:c.3847G>T ENSP00000473211.1:p.Asp1283Tyr
NM_001166111.1:c.3877G>T NP_001159583.1:p.Asp1293Tyr
NM_001166112.1:c.3652G>T NP_001159584.1:p.Asp1218Tyr
NM_001166113.1:c.3733G>T NP_001159585.1:p.Asp1245Tyr
NM_001166114.1:c.3847G>T NP_001159586.1:p.Asp1283Tyr
NM_006702.4:c.3733G>T NP_006693.3:p.Asp1245Tyr
NM_001166111.2:c.3877G>T NP_001159583.1:p.Asp1293Tyr
NM_001166114.2:c.3847G>T MANE Select NP_001159586.1:p.Asp1283Tyr
NM_006702.5:c.3733G>T NP_006693.3:p.Asp1245Tyr
NM_001166112.2:c.3652G>T NP_001159584.1:p.Asp1218Tyr