Canonical Allele Identifier: CA2320979326

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560675G= , CM000681.2:g.7560675G=	GRCh38
NC_000019.9:g.7625561G= , CM000681.1:g.7625561G=	GRCh37
NC_000019.8:g.7531561G=	NCBI36
NG_013374.1:g.31524G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3727G= MANE Select	ENSP00000473211.1:p.Val1243=
ENST00000221249.10:c.3613G=	ENSP00000221249.5:p.Val1205=
ENST00000414982.7:c.3757G=	ENSP00000407509.2:p.Val1253=
ENST00000450331.7:c.3613G=	ENSP00000394348.2:p.Val1205=
ENST00000545201.6:c.3532G=	ENSP00000443323.1:p.Val1178=
ENST00000597202.1:n.85G=
ENST00000599947.1:c.186-339G=
ENST00000600737.5:c.3727G=	ENSP00000473211.1:p.Val1243=
NM_001166111.1:c.3757G=	NP_001159583.1:p.Val1253=
NM_001166112.1:c.3532G=	NP_001159584.1:p.Val1178=
NM_001166113.1:c.3613G=	NP_001159585.1:p.Val1205=
NM_001166114.1:c.3727G=	NP_001159586.1:p.Val1243=
NM_006702.4:c.3613G=	NP_006693.3:p.Val1205=
NM_001166111.2:c.3757G=	NP_001159583.1:p.Val1253=
NM_001166114.2:c.3727G= MANE Select	NP_001159586.1:p.Val1243=
NM_006702.5:c.3613G=	NP_006693.3:p.Val1205=
NM_001166112.2:c.3532G=	NP_001159584.1:p.Val1178=