Canonical Allele Identifier: CA505404323

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7561055-G-A
• MyVariant Identifiers: chr19:g.7625941G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561055G>A , CM000681.2:g.7561055G>A	GRCh38
NC_000019.9:g.7625941G>A , CM000681.1:g.7625941G>A	GRCh37
NC_000019.8:g.7531941G>A	NCBI36
NG_013374.1:g.31904G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000600737.6:c.3858G>A MANE Select	ENSP00000473211.1:p.Glu1286=
ENST00000221249.10:c.3744G>A	ENSP00000221249.5:p.Glu1248=
ENST00000414982.7:c.3888G>A	ENSP00000407509.2:p.Glu1296=
ENST00000450331.7:c.3744G>A	ENSP00000394348.2:p.Glu1248=
ENST00000545201.6:c.3663G>A	ENSP00000443323.1:p.Glu1221=
ENST00000597202.1:n.216G>A
ENST00000599947.1:c.227G>A
ENST00000600737.5:c.3858G>A	ENSP00000473211.1:p.Glu1286=
NM_001166111.1:c.3888G>A	NP_001159583.1:p.Glu1296=
NM_001166112.1:c.3663G>A	NP_001159584.1:p.Glu1221=
NM_001166113.1:c.3744G>A	NP_001159585.1:p.Glu1248=
NM_001166114.1:c.3858G>A	NP_001159586.1:p.Glu1286=
NM_006702.4:c.3744G>A	NP_006693.3:p.Glu1248=
NM_001166111.2:c.3888G>A	NP_001159583.1:p.Glu1296=
NM_001166114.2:c.3858G>A MANE Select	NP_001159586.1:p.Glu1286=
NM_006702.5:c.3744G>A	NP_006693.3:p.Glu1248=
NM_001166112.2:c.3663G>A	NP_001159584.1:p.Glu1221=