Canonical Allele Identifier: CA403122751

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7550396G>A , CM000681.2:g.7550396G>A	GRCh38
NC_000019.9:g.7615282G>A , CM000681.1:g.7615282G>A	GRCh37
NC_000019.8:g.7521282G>A	NCBI36
NG_013374.1:g.21245G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.1913G>A MANE Select	NP_001159586.1:p.Trp638Ter
ENST00000600737.6:c.1913G>A MANE Select	ENSP00000473211.1:p.Trp638Ter
NM_001166111.1:c.1940G>A	NP_001159583.1:p.Trp647Ter
NM_001166111.2:c.1940G>A	NP_001159583.1:p.Trp647Ter
NM_001166112.1:c.1718G>A	NP_001159584.1:p.Trp573Ter
NM_001166112.2:c.1718G>A	NP_001159584.1:p.Trp573Ter
NM_001166113.1:c.1796G>A	NP_001159585.1:p.Trp599Ter
NM_001166114.1:c.1913G>A	NP_001159586.1:p.Trp638Ter
NM_006702.4:c.1796G>A	NP_006693.3:p.Trp599Ter
NM_006702.5:c.1796G>A	NP_006693.3:p.Trp599Ter
ENST00000221249.10:c.1796G>A	ENSP00000221249.5:p.Trp599Ter
ENST00000414982.7:c.1940G>A	ENSP00000407509.2:p.Trp647Ter
ENST00000450331.7:c.1796G>A	ENSP00000394348.2:p.Trp599Ter
ENST00000545201.6:c.1718G>A	ENSP00000443323.1:p.Trp573Ter
ENST00000594864.1:n.371G>A
ENST00000595176.5:n.982G>A
ENST00000600737.5:c.1913G>A	ENSP00000473211.1:p.Trp638Ter