Canonical Allele Identifier: CA403113619

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7542854C>A , CM000681.2:g.7542854C>A	GRCh38
NC_000019.9:g.7607740C>A , CM000681.1:g.7607740C>A	GRCh37
NC_000019.8:g.7513740C>A	NCBI36
NG_013374.1:g.13703C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.1456C>A MANE Select	NP_001159586.1:p.Pro486Thr
ENST00000600737.6:c.1456C>A MANE Select	ENSP00000473211.1:p.Pro486Thr
NM_001166111.1:c.1483C>A	NP_001159583.1:p.Pro495Thr
NM_001166111.2:c.1483C>A	NP_001159583.1:p.Pro495Thr
NM_001166112.1:c.1339C>A	NP_001159584.1:p.Pro447Thr
NM_001166112.2:c.1339C>A	NP_001159584.1:p.Pro447Thr
NM_001166113.1:c.1339C>A	NP_001159585.1:p.Pro447Thr
NM_001166114.1:c.1456C>A	NP_001159586.1:p.Pro486Thr
NM_006702.4:c.1339C>A	NP_006693.3:p.Pro447Thr
NM_006702.5:c.1339C>A	NP_006693.3:p.Pro447Thr
ENST00000221249.10:c.1339C>A	ENSP00000221249.5:p.Pro447Thr
ENST00000414982.7:c.1483C>A	ENSP00000407509.2:p.Pro495Thr
ENST00000450331.7:c.1339C>A	ENSP00000394348.2:p.Pro447Thr
ENST00000545201.6:c.1339C>A	ENSP00000443323.1:p.Pro447Thr
ENST00000595176.5:n.525C>A
ENST00000595889.1:n.257C>A
ENST00000599311.5:n.491C>A
ENST00000600737.5:c.1456C>A	ENSP00000473211.1:p.Pro486Thr