Canonical Allele Identifier: CA9139519

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7540215G>A , CM000681.2:g.7540215G>A	GRCh38
NC_000019.9:g.7605101G>A , CM000681.1:g.7605101G>A	GRCh37
NC_000019.8:g.7511101G>A	NCBI36
NG_013374.1:g.11064G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.621G>A MANE Select	NP_001159586.1:p.Leu207=
ENST00000600737.6:c.621G>A MANE Select	ENSP00000473211.1:p.Leu207=
NM_001166111.1:c.648G>A	NP_001159583.1:p.Leu216=
NM_001166111.2:c.648G>A	NP_001159583.1:p.Leu216=
NM_001166112.1:c.504G>A	NP_001159584.1:p.Leu168=
NM_001166112.2:c.504G>A	NP_001159584.1:p.Leu168=
NM_001166113.1:c.504G>A	NP_001159585.1:p.Leu168=
NM_001166114.1:c.621G>A	NP_001159586.1:p.Leu207=
NM_006702.4:c.504G>A	NP_006693.3:p.Leu168=
NM_006702.5:c.504G>A	NP_006693.3:p.Leu168=
ENST00000221249.10:c.504G>A	ENSP00000221249.5:p.Leu168=
ENST00000414982.7:c.648G>A	ENSP00000407509.2:p.Leu216=
ENST00000450331.7:c.504G>A	ENSP00000394348.2:p.Leu168=
ENST00000545201.6:c.504G>A	ENSP00000443323.1:p.Leu168=
ENST00000594551.1:c.88G>A
ENST00000595264.5:c.143G>A
ENST00000598462.1:n.412G>A
ENST00000600737.5:c.621G>A	ENSP00000473211.1:p.Leu207=
ENST00000601001.5:c.504G>A	ENSP00000472631.1:p.Leu168=