Canonical Allele Identifier: CA9140558

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 632325
• ClinVar RCV Id: RCV000779273 ; RCV002536857 ; RCV002245664
• dbSNP Id: rs143072391
• ExAC: 19:7625546 C / G
• gnomAD v2: 19-7625546-C-G
• gnomAD v3: 19-7560660-C-G
• gnomAD v4: 19-7560660-C-G
• MyVariant Identifiers: chr19:g.7625546C>G (hg19) ; chr19:g.7560660C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560660C>G , CM000681.2:g.7560660C>G	GRCh38
NC_000019.9:g.7625546C>G , CM000681.1:g.7625546C>G	GRCh37
NC_000019.8:g.7531546C>G	NCBI36
NG_013374.1:g.31509C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3712C>G MANE Select	ENSP00000473211.1:p.Gln1238Glu
ENST00000221249.10:c.3598C>G	ENSP00000221249.5:p.Gln1200Glu
ENST00000414982.7:c.3742C>G	ENSP00000407509.2:p.Gln1248Glu
ENST00000450331.7:c.3598C>G	ENSP00000394348.2:p.Gln1200Glu
ENST00000545201.6:c.3517C>G	ENSP00000443323.1:p.Gln1173Glu
ENST00000597202.1:n.70C>G
ENST00000599947.1:c.186-354C>G
ENST00000600737.5:c.3712C>G	ENSP00000473211.1:p.Gln1238Glu
NM_001166111.1:c.3742C>G	NP_001159583.1:p.Gln1248Glu
NM_001166112.1:c.3517C>G	NP_001159584.1:p.Gln1173Glu
NM_001166113.1:c.3598C>G	NP_001159585.1:p.Gln1200Glu
NM_001166114.1:c.3712C>G	NP_001159586.1:p.Gln1238Glu
NM_006702.4:c.3598C>G	NP_006693.3:p.Gln1200Glu
NM_001166111.2:c.3742C>G	NP_001159583.1:p.Gln1248Glu
NM_001166114.2:c.3712C>G MANE Select	NP_001159586.1:p.Gln1238Glu
NM_006702.5:c.3598C>G	NP_006693.3:p.Gln1200Glu
NM_001166112.2:c.3517C>G	NP_001159584.1:p.Gln1173Glu