Canonical Allele Identifier: CA9139720

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7542043G>A , CM000681.2:g.7542043G>A	GRCh38
NC_000019.9:g.7606929G>A , CM000681.1:g.7606929G>A	GRCh37
NC_000019.8:g.7512929G>A	NCBI36
NG_013374.1:g.12892G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.1228G>A MANE Select	NP_001159586.1:p.Val410Ile
ENST00000600737.6:c.1228G>A MANE Select	ENSP00000473211.1:p.Val410Ile
NM_001166111.1:c.1255G>A	NP_001159583.1:p.Val419Ile
NM_001166111.2:c.1255G>A	NP_001159583.1:p.Val419Ile
NM_001166112.1:c.1111G>A	NP_001159584.1:p.Val371Ile
NM_001166112.2:c.1111G>A	NP_001159584.1:p.Val371Ile
NM_001166113.1:c.1111G>A	NP_001159585.1:p.Val371Ile
NM_001166114.1:c.1228G>A	NP_001159586.1:p.Val410Ile
NM_006702.4:c.1111G>A	NP_006693.3:p.Val371Ile
NM_006702.5:c.1111G>A	NP_006693.3:p.Val371Ile
ENST00000221249.10:c.1111G>A	ENSP00000221249.5:p.Val371Ile
ENST00000414982.7:c.1255G>A	ENSP00000407509.2:p.Val419Ile
ENST00000450331.7:c.1111G>A	ENSP00000394348.2:p.Val371Ile
ENST00000545201.6:c.1111G>A	ENSP00000443323.1:p.Val371Ile
ENST00000595176.5:n.297G>A
ENST00000595264.5:c.690+359G>A
ENST00000599311.5:n.263G>A
ENST00000600737.5:c.1228G>A	ENSP00000473211.1:p.Val410Ile