Canonical Allele Identifier: CA505241657

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7549936C>T , CM000681.2:g.7549936C>T	GRCh38
NC_000019.9:g.7614822C>T , CM000681.1:g.7614822C>T	GRCh37
NC_000019.8:g.7520822C>T	NCBI36
NG_013374.1:g.20785C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.1638C>T MANE Select	NP_001159586.1:p.Gly546=
ENST00000600737.6:c.1638C>T MANE Select	ENSP00000473211.1:p.Gly546=
NM_001166111.1:c.1665C>T	NP_001159583.1:p.Gly555=
NM_001166111.2:c.1665C>T	NP_001159583.1:p.Gly555=
NM_001166112.1:c.1443C>T	NP_001159584.1:p.Gly481=
NM_001166112.2:c.1443C>T	NP_001159584.1:p.Gly481=
NM_001166113.1:c.1521C>T	NP_001159585.1:p.Gly507=
NM_001166114.1:c.1638C>T	NP_001159586.1:p.Gly546=
NM_006702.4:c.1521C>T	NP_006693.3:p.Gly507=
NM_006702.5:c.1521C>T	NP_006693.3:p.Gly507=
ENST00000221249.10:c.1521C>T	ENSP00000221249.5:p.Gly507=
ENST00000414982.7:c.1665C>T	ENSP00000407509.2:p.Gly555=
ENST00000450331.7:c.1521C>T	ENSP00000394348.2:p.Gly507=
ENST00000545201.6:c.1443C>T	ENSP00000443323.1:p.Gly481=
ENST00000594864.1:n.96C>T
ENST00000595176.5:n.707C>T
ENST00000595889.1:n.439C>T
ENST00000599311.5:n.751C>T
ENST00000600737.5:c.1638C>T	ENSP00000473211.1:p.Gly546=