Canonical Allele Identifier: CA9139357

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7535974C>G , CM000681.2:g.7535974C>G	GRCh38
NC_000019.9:g.7600860C>G , CM000681.1:g.7600860C>G	GRCh37
NC_000019.8:g.7506860C>G	NCBI36
NG_013374.1:g.6823C>G
NG_015806.1:g.18365C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.186C>G MANE Select	NP_001159586.1:p.Val62=
ENST00000600737.6:c.186C>G MANE Select	ENSP00000473211.1:p.Val62=
NM_001166111.1:c.213C>G	NP_001159583.1:p.Val71=
NM_001166111.2:c.213C>G	NP_001159583.1:p.Val71=
NM_001166112.1:c.69C>G	NP_001159584.1:p.Val23=
NM_001166112.2:c.69C>G	NP_001159584.1:p.Val23=
NM_001166113.1:c.69C>G	NP_001159585.1:p.Val23=
NM_001166114.1:c.186C>G	NP_001159586.1:p.Val62=
NM_006702.4:c.69C>G	NP_006693.3:p.Val23=
NM_006702.5:c.69C>G	NP_006693.3:p.Val23=
ENST00000221249.10:c.69C>G	ENSP00000221249.5:p.Val23=
ENST00000414982.7:c.213C>G	ENSP00000407509.2:p.Val71=
ENST00000450331.7:c.69C>G	ENSP00000394348.2:p.Val23=
ENST00000545201.6:c.69C>G	ENSP00000443323.1:p.Val23=
ENST00000593924.5:c.69C>G	ENSP00000469794.1:p.Val23=
ENST00000596515.5:c.69C>G	ENSP00000470461.1:p.Val23=
ENST00000600737.5:c.186C>G	ENSP00000473211.1:p.Val62=
ENST00000600942.5:c.69C>G	ENSP00000472572.1:p.Val23=
ENST00000601001.5:c.69C>G	ENSP00000472631.1:p.Val23=
ENST00000601668.5:c.69C>G	ENSP00000470608.1:p.Val23=
ENST00000601870.1:c.573C>G