Canonical Allele Identifier: CA9140569

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 1001408
• ClinVar RCV Id: RCV001297699 ; RCV001331613
• dbSNP Id: rs760038069
• ExAC: 19:7625580 G / A
• gnomAD v2: 19-7625580-G-A
• gnomAD v4: 19-7560694-G-A
• COSMIC: COSM2729045 ; COSM2729046
• MyVariant Identifiers: chr19:g.7625580G>A (hg19) ; chr19:g.7560694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560694G>A , CM000681.2:g.7560694G>A	GRCh38
NC_000019.9:g.7625580G>A , CM000681.1:g.7625580G>A	GRCh37
NC_000019.8:g.7531580G>A	NCBI36
NG_013374.1:g.31543G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3746G>A MANE Select	ENSP00000473211.1:p.Arg1249His
ENST00000221249.10:c.3632G>A	ENSP00000221249.5:p.Arg1211His
ENST00000414982.7:c.3776G>A	ENSP00000407509.2:p.Arg1259His
ENST00000450331.7:c.3632G>A	ENSP00000394348.2:p.Arg1211His
ENST00000545201.6:c.3551G>A	ENSP00000443323.1:p.Arg1184His
ENST00000597202.1:n.104G>A
ENST00000599947.1:c.186-320G>A
ENST00000600737.5:c.3746G>A	ENSP00000473211.1:p.Arg1249His
NM_001166111.1:c.3776G>A	NP_001159583.1:p.Arg1259His
NM_001166112.1:c.3551G>A	NP_001159584.1:p.Arg1184His
NM_001166113.1:c.3632G>A	NP_001159585.1:p.Arg1211His
NM_001166114.1:c.3746G>A	NP_001159586.1:p.Arg1249His
NM_006702.4:c.3632G>A	NP_006693.3:p.Arg1211His
NM_001166111.2:c.3776G>A	NP_001159583.1:p.Arg1259His
NM_001166114.2:c.3746G>A MANE Select	NP_001159586.1:p.Arg1249His
NM_006702.5:c.3632G>A	NP_006693.3:p.Arg1211His
NM_001166112.2:c.3551G>A	NP_001159584.1:p.Arg1184His