Canonical Allele Identifier: CA9139372

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 509801
• ClinVar RCV Id: RCV000608033 ; RCV001134321
• dbSNP Id: rs199727584
• ExAC: 19:7600920 G / A
• gnomAD v2: 19-7600920-G-A
• gnomAD v3: 19-7536034-G-A
• gnomAD v4: 19-7536034-G-A
• MyVariant Identifiers: chr19:g.7600920G>A (hg19) ; chr19:g.7536034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7536034G>A , CM000681.2:g.7536034G>A	GRCh38
NC_000019.9:g.7600920G>A , CM000681.1:g.7600920G>A	GRCh37
NC_000019.8:g.7506920G>A	NCBI36
NG_013374.1:g.6883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.232+14G>A MANE Select	ENSP00000473211.1:n.232+14G>A
ENST00000221249.10:c.115+14G>A	ENSP00000221249.5:n.115+14G>A
ENST00000414982.7:c.259+14G>A	ENSP00000407509.2:n.259+14G>A
ENST00000450331.7:c.115+14G>A	ENSP00000394348.2:n.115+14G>A
ENST00000545201.6:c.115+14G>A	ENSP00000443323.1:n.115+14G>A
ENST00000593924.5:c.115+14G>A	ENSP00000469794.1:n.115+14G>A
ENST00000600737.5:c.232+14G>A	ENSP00000473211.1:n.232+14G>A
ENST00000600942.5:c.115+14G>A	ENSP00000472572.1:n.115+14G>A
ENST00000601001.5:c.115+14G>A	ENSP00000472631.1:n.115+14G>A
ENST00000601668.5:c.115+14G>A	ENSP00000470608.1:n.115+14G>A
ENST00000601870.1:c.619+14G>A
ENST00000602191.5:n.54G>A
NM_001166111.1:c.259+14G>A	NP_001159583.1:n.259+14G>A
NM_001166112.1:c.115+14G>A	NP_001159584.1:n.115+14G>A
NM_001166113.1:c.115+14G>A	NP_001159585.1:n.115+14G>A
NM_001166114.1:c.232+14G>A	NP_001159586.1:n.232+14G>A
NM_006702.4:c.115+14G>A	NP_006693.3:n.115+14G>A
NM_001166111.2:c.259+14G>A	NP_001159583.1:n.259+14G>A
NM_001166114.2:c.232+14G>A MANE Select	NP_001159586.1:n.232+14G>A
NM_006702.5:c.115+14G>A	NP_006693.3:n.115+14G>A
NM_001166112.2:c.115+14G>A	NP_001159584.1:n.115+14G>A