Canonical Allele Identifier: CA9140646

Gene: PNPLA6

Linked Data

• dbSNP Id: rs750530405
• ExAC: 19:7626101 G / A
• gnomAD v2: 19-7626101-G-A
• gnomAD v4: 19-7561215-G-A
• MyVariant Identifiers: chr19:g.7626101G>A (hg19) ; chr19:g.7561215G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561215G>A , CM000681.2:g.7561215G>A	GRCh38
NC_000019.9:g.7626101G>A , CM000681.1:g.7626101G>A	GRCh37
NC_000019.8:g.7532101G>A	NCBI36
NG_013374.1:g.32064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3921G>A MANE Select	ENSP00000473211.1:p.Glu1307=
ENST00000221249.10:c.3807G>A	ENSP00000221249.5:p.Glu1269=
ENST00000414982.7:c.3951G>A	ENSP00000407509.2:p.Glu1317=
ENST00000450331.7:c.3807G>A	ENSP00000394348.2:p.Glu1269=
ENST00000545201.6:c.3726G>A	ENSP00000443323.1:p.Glu1242=
ENST00000597202.1:n.279G>A
ENST00000599947.1:c.290G>A
ENST00000600737.5:c.3921G>A	ENSP00000473211.1:p.Glu1307=
NM_001166111.1:c.3951G>A	NP_001159583.1:p.Glu1317=
NM_001166112.1:c.3726G>A	NP_001159584.1:p.Glu1242=
NM_001166113.1:c.3807G>A	NP_001159585.1:p.Glu1269=
NM_001166114.1:c.3921G>A	NP_001159586.1:p.Glu1307=
NM_006702.4:c.3807G>A	NP_006693.3:p.Glu1269=
NM_001166111.2:c.3951G>A	NP_001159583.1:p.Glu1317=
NM_001166114.2:c.3921G>A MANE Select	NP_001159586.1:p.Glu1307=
NM_006702.5:c.3807G>A	NP_006693.3:p.Glu1269=
NM_001166112.2:c.3726G>A	NP_001159584.1:p.Glu1242=