Canonical Allele Identifier: CA2320979355
Gene: PNPLA6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7560745A= , CM000681.2:g.7560745A= GRCh38
NC_000019.9:g.7625631A= , CM000681.1:g.7625631A= GRCh37
NC_000019.8:g.7531631A= NCBI36
NG_013374.1:g.31594A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.3797A= MANE Select ENSP00000473211.1:p.Asn1266=
ENST00000221249.10:c.3683A= ENSP00000221249.5:p.Asn1228=
ENST00000414982.7:c.3827A= ENSP00000407509.2:p.Asn1276=
ENST00000450331.7:c.3683A= ENSP00000394348.2:p.Asn1228=
ENST00000545201.6:c.3602A= ENSP00000443323.1:p.Asn1201=
ENST00000597202.1:n.155A=
ENST00000599947.1:c.186-269A=
ENST00000600737.5:c.3797A= ENSP00000473211.1:p.Asn1266=
NM_001166111.1:c.3827A= NP_001159583.1:p.Asn1276=
NM_001166112.1:c.3602A= NP_001159584.1:p.Asn1201=
NM_001166113.1:c.3683A= NP_001159585.1:p.Asn1228=
NM_001166114.1:c.3797A= NP_001159586.1:p.Asn1266=
NM_006702.4:c.3683A= NP_006693.3:p.Asn1228=
NM_001166111.2:c.3827A= NP_001159583.1:p.Asn1276=
NM_001166114.2:c.3797A= MANE Select NP_001159586.1:p.Asn1266=
NM_006702.5:c.3683A= NP_006693.3:p.Asn1228=
NM_001166112.2:c.3602A= NP_001159584.1:p.Asn1201=