Canonical Allele Identifier: CA9140091

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 330527
• ClinVar RCV Id: RCV000300253
• dbSNP Id: rs756209420
• ExAC: 19:7619084 C / A
• gnomAD v2: 19-7619084-C-A
• gnomAD v4: 19-7554198-C-A
• MyVariant Identifiers: chr19:g.7619084C>A (hg19) ; chr19:g.7554198C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7554198C>A , CM000681.2:g.7554198C>A	GRCh38
NC_000019.9:g.7619084C>A , CM000681.1:g.7619084C>A	GRCh37
NC_000019.8:g.7525084C>A	NCBI36
NG_013374.1:g.25047C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.2402-11C>A MANE Select	ENSP00000473211.1:n.2402-11C>A
ENST00000221249.10:c.2288-11C>A	ENSP00000221249.5:n.2288-11C>A
ENST00000414982.7:c.2432-11C>A	ENSP00000407509.2:n.2432-11C>A
ENST00000450331.7:c.2288-11C>A	ENSP00000394348.2:n.2288-11C>A
ENST00000545201.6:c.2207-11C>A	ENSP00000443323.1:n.2207-11C>A
ENST00000599951.1:n.500-11C>A
ENST00000600737.5:c.2402-11C>A	ENSP00000473211.1:n.2402-11C>A
NM_001166111.1:c.2432-11C>A	NP_001159583.1:n.2432-11C>A
NM_001166112.1:c.2207-11C>A	NP_001159584.1:n.2207-11C>A
NM_001166113.1:c.2288-11C>A	NP_001159585.1:n.2288-11C>A
NM_001166114.1:c.2402-11C>A	NP_001159586.1:n.2402-11C>A
NM_006702.4:c.2288-11C>A	NP_006693.3:n.2288-11C>A
NM_001166111.2:c.2432-11C>A	NP_001159583.1:n.2432-11C>A
NM_001166114.2:c.2402-11C>A MANE Select	NP_001159586.1:n.2402-11C>A
NM_006702.5:c.2288-11C>A	NP_006693.3:n.2288-11C>A
NM_001166112.2:c.2207-11C>A	NP_001159584.1:n.2207-11C>A