Canonical Allele Identifier: CA403120009

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7550018C>T , CM000681.2:g.7550018C>T	GRCh38
NC_000019.9:g.7614904C>T , CM000681.1:g.7614904C>T	GRCh37
NC_000019.8:g.7520904C>T	NCBI36
NG_013374.1:g.20867C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.1720C>T MANE Select	NP_001159586.1:p.Gln574Ter
ENST00000600737.6:c.1720C>T MANE Select	ENSP00000473211.1:p.Gln574Ter
NM_001166111.1:c.1747C>T	NP_001159583.1:p.Gln583Ter
NM_001166111.2:c.1747C>T	NP_001159583.1:p.Gln583Ter
NM_001166112.1:c.1525C>T	NP_001159584.1:p.Gln509Ter
NM_001166112.2:c.1525C>T	NP_001159584.1:p.Gln509Ter
NM_001166113.1:c.1603C>T	NP_001159585.1:p.Gln535Ter
NM_001166114.1:c.1720C>T	NP_001159586.1:p.Gln574Ter
NM_006702.4:c.1603C>T	NP_006693.3:p.Gln535Ter
NM_006702.5:c.1603C>T	NP_006693.3:p.Gln535Ter
ENST00000221249.10:c.1603C>T	ENSP00000221249.5:p.Gln535Ter
ENST00000414982.7:c.1747C>T	ENSP00000407509.2:p.Gln583Ter
ENST00000450331.7:c.1603C>T	ENSP00000394348.2:p.Gln535Ter
ENST00000545201.6:c.1525C>T	ENSP00000443323.1:p.Gln509Ter
ENST00000594864.1:n.178C>T
ENST00000595176.5:n.789C>T
ENST00000595889.1:n.521C>T
ENST00000599311.5:n.833C>T
ENST00000600737.5:c.1720C>T	ENSP00000473211.1:p.Gln574Ter