Canonical Allele Identifier: CA9140645

Gene: PNPLA6

Linked Data

• dbSNP Id: rs764170217
• ExAC: 19:7626098 G / C
• gnomAD v2: 19-7626098-G-C
• MyVariant Identifiers: chr19:g.7626098G>C (hg19) ; chr19:g.7561212G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561212G>C , CM000681.2:g.7561212G>C	GRCh38
NC_000019.9:g.7626098G>C , CM000681.1:g.7626098G>C	GRCh37
NC_000019.8:g.7532098G>C	NCBI36
NG_013374.1:g.32061G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3918G>C MANE Select	ENSP00000473211.1:p.Glu1306Asp
ENST00000221249.10:c.3804G>C	ENSP00000221249.5:p.Glu1268Asp
ENST00000414982.7:c.3948G>C	ENSP00000407509.2:p.Glu1316Asp
ENST00000450331.7:c.3804G>C	ENSP00000394348.2:p.Glu1268Asp
ENST00000545201.6:c.3723G>C	ENSP00000443323.1:p.Glu1241Asp
ENST00000597202.1:n.276G>C
ENST00000599947.1:c.287G>C
ENST00000600737.5:c.3918G>C	ENSP00000473211.1:p.Glu1306Asp
NM_001166111.1:c.3948G>C	NP_001159583.1:p.Glu1316Asp
NM_001166112.1:c.3723G>C	NP_001159584.1:p.Glu1241Asp
NM_001166113.1:c.3804G>C	NP_001159585.1:p.Glu1268Asp
NM_001166114.1:c.3918G>C	NP_001159586.1:p.Glu1306Asp
NM_006702.4:c.3804G>C	NP_006693.3:p.Glu1268Asp
NM_001166111.2:c.3948G>C	NP_001159583.1:p.Glu1316Asp
NM_001166114.2:c.3918G>C MANE Select	NP_001159586.1:p.Glu1306Asp
NM_006702.5:c.3804G>C	NP_006693.3:p.Glu1268Asp
NM_001166112.2:c.3723G>C	NP_001159584.1:p.Glu1241Asp