Canonical Allele Identifier: CA9139528

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7540278C>T , CM000681.2:g.7540278C>T	GRCh38
NC_000019.9:g.7605164C>T , CM000681.1:g.7605164C>T	GRCh37
NC_000019.8:g.7511164C>T	NCBI36
NG_013374.1:g.11127C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.684C>T MANE Select	NP_001159586.1:p.Asp228=
ENST00000600737.6:c.684C>T MANE Select	ENSP00000473211.1:p.Asp228=
NM_001166111.1:c.711C>T	NP_001159583.1:p.Asp237=
NM_001166111.2:c.711C>T	NP_001159583.1:p.Asp237=
NM_001166112.1:c.567C>T	NP_001159584.1:p.Asp189=
NM_001166112.2:c.567C>T	NP_001159584.1:p.Asp189=
NM_001166113.1:c.567C>T	NP_001159585.1:p.Asp189=
NM_001166114.1:c.684C>T	NP_001159586.1:p.Asp228=
NM_006702.4:c.567C>T	NP_006693.3:p.Asp189=
NM_006702.5:c.567C>T	NP_006693.3:p.Asp189=
ENST00000221249.10:c.567C>T	ENSP00000221249.5:p.Asp189=
ENST00000414982.7:c.711C>T	ENSP00000407509.2:p.Asp237=
ENST00000450331.7:c.567C>T	ENSP00000394348.2:p.Asp189=
ENST00000545201.6:c.567C>T	ENSP00000443323.1:p.Asp189=
ENST00000594551.1:c.151C>T
ENST00000595264.5:c.206C>T
ENST00000598462.1:n.475C>T
ENST00000600737.5:c.684C>T	ENSP00000473211.1:p.Asp228=