Canonical Allele Identifier: CA304859127

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 509719
• ClinVar RCV Id: RCV000605991 ; RCV001128694
• dbSNP Id: rs185247203
• gnomAD v2: 19-7599791-G-A
• gnomAD v3: 19-7534905-G-A
• gnomAD v4: 19-7534905-G-A
• MyVariant Identifiers: chr19:g.7599791G>A (hg19) ; chr19:g.7534905G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7534905G>A , CM000681.2:g.7534905G>A	GRCh38
NC_000019.9:g.7599791G>A , CM000681.1:g.7599791G>A	GRCh37
NC_000019.8:g.7505791G>A	NCBI36
NG_013374.1:g.5754G>A
NG_015806.1:g.17296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221249.10:c.-43+3G>A	ENSP00000221249.5:n.-43+3G>A
ENST00000414982.7:c.-43+3G>A	ENSP00000407509.2:n.-43+3G>A
ENST00000450331.7:c.-119+3G>A	ENSP00000394348.2:n.-119+3G>A
ENST00000545201.6:c.-43+3G>A	ENSP00000443323.1:n.-43+3G>A
ENST00000594754.5:n.312G>A
ENST00000596515.5:c.-43+3G>A	ENSP00000470461.1:n.-43+3G>A
ENST00000601001.5:c.-130+3G>A	ENSP00000472631.1:n.-130+3G>A
ENST00000601668.5:c.-43+3G>A	ENSP00000470608.1:n.-43+3G>A
ENST00000601870.1:c.462+3G>A
NM_001166111.1:c.-43+3G>A	NP_001159583.1:n.-43+3G>A
NM_001166112.1:c.-43+3G>A	NP_001159584.1:n.-43+3G>A
NM_001166113.1:c.-119+3G>A	NP_001159585.1:n.-119+3G>A
NM_006702.4:c.-43+3G>A	NP_006693.3:n.-43+3G>A
NM_001166111.2:c.-43+3G>A	NP_001159583.1:n.-43+3G>A
NM_006702.5:c.-43+3G>A	NP_006693.3:n.-43+3G>A
NM_001166112.2:c.-43+3G>A	NP_001159584.1:n.-43+3G>A