Canonical Allele Identifier: CA170918

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7558861C>T , CM000681.2:g.7558861C>T	GRCh38
NC_000019.9:g.7623747C>T , CM000681.1:g.7623747C>T	GRCh37
NC_000019.8:g.7529747C>T	NCBI36
NG_013374.1:g.29710C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.3409C>T MANE Select	NP_001159586.1:p.Arg1137Cys
ENST00000600737.6:c.3409C>T MANE Select	ENSP00000473211.1:p.Arg1137Cys
NM_001166111.1:c.3439C>T	NP_001159583.1:p.Arg1147Cys
NM_001166111.2:c.3439C>T	NP_001159583.1:p.Arg1147Cys
NM_001166112.1:c.3214C>T	NP_001159584.1:p.Arg1072Cys
NM_001166112.2:c.3214C>T	NP_001159584.1:p.Arg1072Cys
NM_001166113.1:c.3295C>T	NP_001159585.1:p.Arg1099Cys
NM_001166114.1:c.3409C>T	NP_001159586.1:p.Arg1137Cys
NM_006702.4:c.3295C>T	NP_006693.3:p.Arg1099Cys
NM_006702.5:c.3295C>T	NP_006693.3:p.Arg1099Cys
ENST00000221249.10:c.3295C>T	ENSP00000221249.5:p.Arg1099Cys
ENST00000414982.7:c.3439C>T	ENSP00000407509.2:p.Arg1147Cys
ENST00000450331.7:c.3295C>T	ENSP00000394348.2:p.Arg1099Cys
ENST00000545201.6:c.3214C>T	ENSP00000443323.1:p.Arg1072Cys
ENST00000600737.5:c.3409C>T	ENSP00000473211.1:p.Arg1137Cys
ENST00000646984.1:c.580C>T	ENSP00000496219.1:p.Arg194Cys