Canonical Allele Identifier: CA304883065

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 2191786
• ClinVar RCV Id: RCV002632994
• dbSNP Id: rs141102875
• gnomAD v2: 19-7626097-A-G
• gnomAD v3: 19-7561211-A-G
• gnomAD v4: 19-7561211-A-G
• MyVariant Identifiers: chr19:g.7626097A>G (hg19) ; chr19:g.7561211A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561211A>G , CM000681.2:g.7561211A>G	GRCh38
NC_000019.9:g.7626097A>G , CM000681.1:g.7626097A>G	GRCh37
NC_000019.8:g.7532097A>G	NCBI36
NG_013374.1:g.32060A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3917A>G MANE Select	ENSP00000473211.1:p.Glu1306Gly
ENST00000221249.10:c.3803A>G	ENSP00000221249.5:p.Glu1268Gly
ENST00000414982.7:c.3947A>G	ENSP00000407509.2:p.Glu1316Gly
ENST00000450331.7:c.3803A>G	ENSP00000394348.2:p.Glu1268Gly
ENST00000545201.6:c.3722A>G	ENSP00000443323.1:p.Glu1241Gly
ENST00000597202.1:n.275A>G
ENST00000599947.1:c.286A>G
ENST00000600737.5:c.3917A>G	ENSP00000473211.1:p.Glu1306Gly
NM_001166111.1:c.3947A>G	NP_001159583.1:p.Glu1316Gly
NM_001166112.1:c.3722A>G	NP_001159584.1:p.Glu1241Gly
NM_001166113.1:c.3803A>G	NP_001159585.1:p.Glu1268Gly
NM_001166114.1:c.3917A>G	NP_001159586.1:p.Glu1306Gly
NM_006702.4:c.3803A>G	NP_006693.3:p.Glu1268Gly
NM_001166111.2:c.3947A>G	NP_001159583.1:p.Glu1316Gly
NM_001166114.2:c.3917A>G MANE Select	NP_001159586.1:p.Glu1306Gly
NM_006702.5:c.3803A>G	NP_006693.3:p.Glu1268Gly
NM_001166112.2:c.3722A>G	NP_001159584.1:p.Glu1241Gly