Canonical Allele Identifier: CA9140300

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7555698G>A , CM000681.2:g.7555698G>A	GRCh38
NC_000019.9:g.7620584G>A , CM000681.1:g.7620584G>A	GRCh37
NC_000019.8:g.7526584G>A	NCBI36
NG_013374.1:g.26547G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.3028G>A MANE Select	NP_001159586.1:p.Gly1010Arg
ENST00000600737.6:c.3028G>A MANE Select	ENSP00000473211.1:p.Gly1010Arg
NM_001166111.1:c.3058G>A	NP_001159583.1:p.Gly1020Arg
NM_001166111.2:c.3058G>A	NP_001159583.1:p.Gly1020Arg
NM_001166112.1:c.2833G>A	NP_001159584.1:p.Gly945Arg
NM_001166112.2:c.2833G>A	NP_001159584.1:p.Gly945Arg
NM_001166113.1:c.2914G>A	NP_001159585.1:p.Gly972Arg
NM_001166114.1:c.3028G>A	NP_001159586.1:p.Gly1010Arg
NM_006702.4:c.2914G>A	NP_006693.3:p.Gly972Arg
NM_006702.5:c.2914G>A	NP_006693.3:p.Gly972Arg
ENST00000221249.10:c.2914G>A	ENSP00000221249.5:p.Gly972Arg
ENST00000414982.7:c.3058G>A	ENSP00000407509.2:p.Gly1020Arg
ENST00000450331.7:c.2914G>A	ENSP00000394348.2:p.Gly972Arg
ENST00000545201.6:c.2833G>A	ENSP00000443323.1:p.Gly945Arg
ENST00000600737.5:c.3028G>A	ENSP00000473211.1:p.Gly1010Arg
ENST00000646984.1:c.199G>A	ENSP00000496219.1:p.Gly67Arg