Canonical Allele Identifier: CA2499225642

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 1172662
• ClinVar RCV Id: RCV001526642
• dbSNP Id: rs2146123001

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561082dup , CM000681.2:g.7561082dup	GRCh38
NC_000019.9:g.7625968dup , CM000681.1:g.7625968dup	GRCh37
NC_000019.8:g.7531968dup	NCBI36
NG_013374.1:g.31931dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3885dup MANE Select	ENSP00000473211.1:p.Ser1296GlufsTer5
ENST00000221249.10:c.3771dup	ENSP00000221249.5:p.Ser1258GlufsTer5
ENST00000414982.7:c.3915dup	ENSP00000407509.2:p.Ser1306GlufsTer5
ENST00000450331.7:c.3771dup	ENSP00000394348.2:p.Ser1258GlufsTer5
ENST00000545201.6:c.3690dup	ENSP00000443323.1:p.Ser1231GlufsTer5
ENST00000597202.1:n.243dup
ENST00000599947.1:c.254dup
ENST00000600737.5:c.3885dup	ENSP00000473211.1:p.Ser1296GlufsTer5
NM_001166111.1:c.3915dup	NP_001159583.1:p.Ser1306GlufsTer5
NM_001166112.1:c.3690dup	NP_001159584.1:p.Ser1231GlufsTer5
NM_001166113.1:c.3771dup	NP_001159585.1:p.Ser1258GlufsTer5
NM_001166114.1:c.3885dup	NP_001159586.1:p.Ser1296GlufsTer5
NM_006702.4:c.3771dup	NP_006693.3:p.Ser1258GlufsTer5
NM_001166111.2:c.3915dup	NP_001159583.1:p.Ser1306GlufsTer5
NM_001166114.2:c.3885dup MANE Select	NP_001159586.1:p.Ser1296GlufsTer5
NM_006702.5:c.3771dup	NP_006693.3:p.Ser1258GlufsTer5
NM_001166112.2:c.3690dup	NP_001159584.1:p.Ser1231GlufsTer5