Canonical Allele Identifier: CA403137941

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7560752-C-A
• MyVariant Identifiers: chr19:g.7625638C>A (hg19) ; chr19:g.7560752C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560752C>A , CM000681.2:g.7560752C>A	GRCh38
NC_000019.9:g.7625638C>A , CM000681.1:g.7625638C>A	GRCh37
NC_000019.8:g.7531638C>A	NCBI36
NG_013374.1:g.31601C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3804C>A MANE Select	ENSP00000473211.1:p.Ser1268Arg
ENST00000221249.10:c.3690C>A	ENSP00000221249.5:p.Ser1230Arg
ENST00000414982.7:c.3834C>A	ENSP00000407509.2:p.Ser1278Arg
ENST00000450331.7:c.3690C>A	ENSP00000394348.2:p.Ser1230Arg
ENST00000545201.6:c.3609C>A	ENSP00000443323.1:p.Ser1203Arg
ENST00000597202.1:n.162C>A
ENST00000599947.1:c.186-262C>A
ENST00000600737.5:c.3804C>A	ENSP00000473211.1:p.Ser1268Arg
NM_001166111.1:c.3834C>A	NP_001159583.1:p.Ser1278Arg
NM_001166112.1:c.3609C>A	NP_001159584.1:p.Ser1203Arg
NM_001166113.1:c.3690C>A	NP_001159585.1:p.Ser1230Arg
NM_001166114.1:c.3804C>A	NP_001159586.1:p.Ser1268Arg
NM_006702.4:c.3690C>A	NP_006693.3:p.Ser1230Arg
NM_001166111.2:c.3834C>A	NP_001159583.1:p.Ser1278Arg
NM_001166114.2:c.3804C>A MANE Select	NP_001159586.1:p.Ser1268Arg
NM_006702.5:c.3690C>A	NP_006693.3:p.Ser1230Arg
NM_001166112.2:c.3609C>A	NP_001159584.1:p.Ser1203Arg