Canonical Allele Identifier: CA2320976392
Gene: PNPLA6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7555004A= , CM000681.2:g.7555004A= GRCh38
NC_000019.9:g.7619890A= , CM000681.1:g.7619890A= GRCh37
NC_000019.8:g.7525890A= NCBI36
NG_013374.1:g.25853A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.2746A= MANE Select ENSP00000473211.1:p.Ser916=
ENST00000221249.10:c.2632A= ENSP00000221249.5:p.Ser878=
ENST00000414982.7:c.2776A= ENSP00000407509.2:p.Ser926=
ENST00000450331.7:c.2632A= ENSP00000394348.2:p.Ser878=
ENST00000545201.6:c.2551A= ENSP00000443323.1:p.Ser851=
ENST00000600737.5:c.2746A= ENSP00000473211.1:p.Ser916=
NM_001166111.1:c.2776A= NP_001159583.1:p.Ser926=
NM_001166112.1:c.2551A= NP_001159584.1:p.Ser851=
NM_001166113.1:c.2632A= NP_001159585.1:p.Ser878=
NM_001166114.1:c.2746A= NP_001159586.1:p.Ser916=
NM_006702.4:c.2632A= NP_006693.3:p.Ser878=
NM_001166111.2:c.2776A= NP_001159583.1:p.Ser926=
NM_001166114.2:c.2746A= MANE Select NP_001159586.1:p.Ser916=
NM_006702.5:c.2632A= NP_006693.3:p.Ser878=
NM_001166112.2:c.2551A= NP_001159584.1:p.Ser851=