Canonical Allele Identifier: CA403137373

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7560661-A-G
• MyVariant Identifiers: chr19:g.7625547A>G (hg19) ; chr19:g.7560661A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560661A>G , CM000681.2:g.7560661A>G	GRCh38
NC_000019.9:g.7625547A>G , CM000681.1:g.7625547A>G	GRCh37
NC_000019.8:g.7531547A>G	NCBI36
NG_013374.1:g.31510A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3713A>G MANE Select	ENSP00000473211.1:p.Gln1238Arg
ENST00000221249.10:c.3599A>G	ENSP00000221249.5:p.Gln1200Arg
ENST00000414982.7:c.3743A>G	ENSP00000407509.2:p.Gln1248Arg
ENST00000450331.7:c.3599A>G	ENSP00000394348.2:p.Gln1200Arg
ENST00000545201.6:c.3518A>G	ENSP00000443323.1:p.Gln1173Arg
ENST00000597202.1:n.71A>G
ENST00000599947.1:c.186-353A>G
ENST00000600737.5:c.3713A>G	ENSP00000473211.1:p.Gln1238Arg
NM_001166111.1:c.3743A>G	NP_001159583.1:p.Gln1248Arg
NM_001166112.1:c.3518A>G	NP_001159584.1:p.Gln1173Arg
NM_001166113.1:c.3599A>G	NP_001159585.1:p.Gln1200Arg
NM_001166114.1:c.3713A>G	NP_001159586.1:p.Gln1238Arg
NM_006702.4:c.3599A>G	NP_006693.3:p.Gln1200Arg
NM_001166111.2:c.3743A>G	NP_001159583.1:p.Gln1248Arg
NM_001166114.2:c.3713A>G MANE Select	NP_001159586.1:p.Gln1238Arg
NM_006702.5:c.3599A>G	NP_006693.3:p.Gln1200Arg
NM_001166112.2:c.3518A>G	NP_001159584.1:p.Gln1173Arg