Canonical Allele Identifier: CA9140484

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7558858G>A , CM000681.2:g.7558858G>A	GRCh38
NC_000019.9:g.7623744G>A , CM000681.1:g.7623744G>A	GRCh37
NC_000019.8:g.7529744G>A	NCBI36
NG_013374.1:g.29707G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.3406G>A MANE Select	NP_001159586.1:p.Ala1136Thr
ENST00000600737.6:c.3406G>A MANE Select	ENSP00000473211.1:p.Ala1136Thr
NM_001166111.1:c.3436G>A	NP_001159583.1:p.Ala1146Thr
NM_001166111.2:c.3436G>A	NP_001159583.1:p.Ala1146Thr
NM_001166112.1:c.3211G>A	NP_001159584.1:p.Ala1071Thr
NM_001166112.2:c.3211G>A	NP_001159584.1:p.Ala1071Thr
NM_001166113.1:c.3292G>A	NP_001159585.1:p.Ala1098Thr
NM_001166114.1:c.3406G>A	NP_001159586.1:p.Ala1136Thr
NM_006702.4:c.3292G>A	NP_006693.3:p.Ala1098Thr
NM_006702.5:c.3292G>A	NP_006693.3:p.Ala1098Thr
ENST00000221249.10:c.3292G>A	ENSP00000221249.5:p.Ala1098Thr
ENST00000414982.7:c.3436G>A	ENSP00000407509.2:p.Ala1146Thr
ENST00000450331.7:c.3292G>A	ENSP00000394348.2:p.Ala1098Thr
ENST00000545201.6:c.3211G>A	ENSP00000443323.1:p.Ala1071Thr
ENST00000600737.5:c.3406G>A	ENSP00000473211.1:p.Ala1136Thr
ENST00000646984.1:c.577G>A	ENSP00000496219.1:p.Ala193Thr