Canonical Allele Identifier: CA9139402

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7536264T>A , CM000681.2:g.7536264T>A	GRCh38
NC_000019.9:g.7601150T>A , CM000681.1:g.7601150T>A	GRCh37
NC_000019.8:g.7507150T>A	NCBI36
NG_013374.1:g.7113T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.306T>A MANE Select	NP_001159586.1:p.Ile102=
ENST00000600737.6:c.306T>A MANE Select	ENSP00000473211.1:p.Ile102=
NM_001166111.1:c.333T>A	NP_001159583.1:p.Ile111=
NM_001166111.2:c.333T>A	NP_001159583.1:p.Ile111=
NM_001166112.1:c.189T>A	NP_001159584.1:p.Ile63=
NM_001166112.2:c.189T>A	NP_001159584.1:p.Ile63=
NM_001166113.1:c.189T>A	NP_001159585.1:p.Ile63=
NM_001166114.1:c.306T>A	NP_001159586.1:p.Ile102=
NM_006702.4:c.189T>A	NP_006693.3:p.Ile63=
NM_006702.5:c.189T>A	NP_006693.3:p.Ile63=
ENST00000221249.10:c.189T>A	ENSP00000221249.5:p.Ile63=
ENST00000414982.7:c.333T>A	ENSP00000407509.2:p.Ile111=
ENST00000450331.7:c.189T>A	ENSP00000394348.2:p.Ile63=
ENST00000545201.6:c.189T>A	ENSP00000443323.1:p.Ile63=
ENST00000593924.5:c.189T>A	ENSP00000469794.1:p.Ile63=
ENST00000600737.5:c.306T>A	ENSP00000473211.1:p.Ile102=
ENST00000600942.5:c.189T>A	ENSP00000472572.1:p.Ile63=
ENST00000601001.5:c.189T>A	ENSP00000472631.1:p.Ile63=
ENST00000601668.5:c.189T>A	ENSP00000470608.1:p.Ile63=
ENST00000601870.1:c.693T>A
ENST00000602191.5:n.284T>A