Canonical Allele Identifier: CA403115199

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7543082C>T , CM000681.2:g.7543082C>T	GRCh38
NC_000019.9:g.7607968C>T , CM000681.1:g.7607968C>T	GRCh37
NC_000019.8:g.7513968C>T	NCBI36
NG_013374.1:g.13931C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.1606C>T MANE Select	NP_001159586.1:p.Gln536Ter
ENST00000600737.6:c.1606C>T MANE Select	ENSP00000473211.1:p.Gln536Ter
NM_001166111.1:c.1633C>T	NP_001159583.1:p.Gln545Ter
NM_001166111.2:c.1633C>T	NP_001159583.1:p.Gln545Ter
NM_001166112.1:c.1413+154C>T	NP_001159584.1:n.1413+154C>T
NM_001166112.2:c.1413+154C>T	NP_001159584.1:n.1413+154C>T
NM_001166113.1:c.1489C>T	NP_001159585.1:p.Gln497Ter
NM_001166114.1:c.1606C>T	NP_001159586.1:p.Gln536Ter
NM_006702.4:c.1489C>T	NP_006693.3:p.Gln497Ter
NM_006702.5:c.1489C>T	NP_006693.3:p.Gln497Ter
ENST00000221249.10:c.1489C>T	ENSP00000221249.5:p.Gln497Ter
ENST00000414982.7:c.1633C>T	ENSP00000407509.2:p.Gln545Ter
ENST00000450331.7:c.1489C>T	ENSP00000394348.2:p.Gln497Ter
ENST00000545201.6:c.1413+154C>T	ENSP00000443323.1:n.1413+154C>T
ENST00000595176.5:n.675C>T
ENST00000595889.1:n.407C>T
ENST00000599311.5:n.719C>T
ENST00000600737.5:c.1606C>T	ENSP00000473211.1:p.Gln536Ter