Canonical Allele Identifier: CA9139921

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7550068A>G , CM000681.2:g.7550068A>G	GRCh38
NC_000019.9:g.7614954A>G , CM000681.1:g.7614954A>G	GRCh37
NC_000019.8:g.7520954A>G	NCBI36
NG_013374.1:g.20917A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.1770A>G MANE Select	NP_001159586.1:p.Gln590=
ENST00000600737.6:c.1770A>G MANE Select	ENSP00000473211.1:p.Gln590=
NM_001166111.1:c.1797A>G	NP_001159583.1:p.Gln599=
NM_001166111.2:c.1797A>G	NP_001159583.1:p.Gln599=
NM_001166112.1:c.1575A>G	NP_001159584.1:p.Gln525=
NM_001166112.2:c.1575A>G	NP_001159584.1:p.Gln525=
NM_001166113.1:c.1653A>G	NP_001159585.1:p.Gln551=
NM_001166114.1:c.1770A>G	NP_001159586.1:p.Gln590=
NM_006702.4:c.1653A>G	NP_006693.3:p.Gln551=
NM_006702.5:c.1653A>G	NP_006693.3:p.Gln551=
ENST00000221249.10:c.1653A>G	ENSP00000221249.5:p.Gln551=
ENST00000414982.7:c.1797A>G	ENSP00000407509.2:p.Gln599=
ENST00000450331.7:c.1653A>G	ENSP00000394348.2:p.Gln551=
ENST00000545201.6:c.1575A>G	ENSP00000443323.1:p.Gln525=
ENST00000594864.1:n.228A>G
ENST00000595176.5:n.839A>G
ENST00000595889.1:n.571A>G
ENST00000599311.5:n.883A>G
ENST00000600737.5:c.1770A>G	ENSP00000473211.1:p.Gln590=