Canonical Allele Identifier: CA403129460

Gene: PNPLA6

Linked Data

• gnomAD v3: 19-7554936-A-G
• gnomAD v4: 19-7554936-A-G
• MyVariant Identifiers: chr19:g.7619822A>G (hg19) ; chr19:g.7554936A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7554936A>G , CM000681.2:g.7554936A>G	GRCh38
NC_000019.9:g.7619822A>G , CM000681.1:g.7619822A>G	GRCh37
NC_000019.8:g.7525822A>G	NCBI36
NG_013374.1:g.25785A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.2678A>G MANE Select	ENSP00000473211.1:p.Gln893Arg
ENST00000221249.10:c.2564A>G	ENSP00000221249.5:p.Gln855Arg
ENST00000414982.7:c.2708A>G	ENSP00000407509.2:p.Gln903Arg
ENST00000450331.7:c.2564A>G	ENSP00000394348.2:p.Gln855Arg
ENST00000545201.6:c.2483A>G	ENSP00000443323.1:p.Gln828Arg
ENST00000600737.5:c.2678A>G	ENSP00000473211.1:p.Gln893Arg
NM_001166111.1:c.2708A>G	NP_001159583.1:p.Gln903Arg
NM_001166112.1:c.2483A>G	NP_001159584.1:p.Gln828Arg
NM_001166113.1:c.2564A>G	NP_001159585.1:p.Gln855Arg
NM_001166114.1:c.2678A>G	NP_001159586.1:p.Gln893Arg
NM_006702.4:c.2564A>G	NP_006693.3:p.Gln855Arg
NM_001166111.2:c.2708A>G	NP_001159583.1:p.Gln903Arg
NM_001166114.2:c.2678A>G MANE Select	NP_001159586.1:p.Gln893Arg
NM_006702.5:c.2564A>G	NP_006693.3:p.Gln855Arg
NM_001166112.2:c.2483A>G	NP_001159584.1:p.Gln828Arg