Canonical Allele Identifier: CA403124631

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7551072G>C , CM000681.2:g.7551072G>C	GRCh38
NC_000019.9:g.7615958G>C , CM000681.1:g.7615958G>C	GRCh37
NC_000019.8:g.7521958G>C	NCBI36
NG_013374.1:g.21921G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.2149G>C MANE Select	NP_001159586.1:p.Gly717Arg
ENST00000600737.6:c.2149G>C MANE Select	ENSP00000473211.1:p.Gly717Arg
NM_001166111.1:c.2176G>C	NP_001159583.1:p.Gly726Arg
NM_001166111.2:c.2176G>C	NP_001159583.1:p.Gly726Arg
NM_001166112.1:c.1954G>C	NP_001159584.1:p.Gly652Arg
NM_001166112.2:c.1954G>C	NP_001159584.1:p.Gly652Arg
NM_001166113.1:c.2032G>C	NP_001159585.1:p.Gly678Arg
NM_001166114.1:c.2149G>C	NP_001159586.1:p.Gly717Arg
NM_006702.4:c.2032G>C	NP_006693.3:p.Gly678Arg
NM_006702.5:c.2032G>C	NP_006693.3:p.Gly678Arg
ENST00000221249.10:c.2032G>C	ENSP00000221249.5:p.Gly678Arg
ENST00000414982.7:c.2176G>C	ENSP00000407509.2:p.Gly726Arg
ENST00000450331.7:c.2032G>C	ENSP00000394348.2:p.Gly678Arg
ENST00000545201.6:c.1954G>C	ENSP00000443323.1:p.Gly652Arg
ENST00000599951.1:n.247G>C
ENST00000600737.5:c.2149G>C	ENSP00000473211.1:p.Gly717Arg