Canonical Allele Identifier: CA304882441

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7558983G>C , CM000681.2:g.7558983G>C	GRCh38
NC_000019.9:g.7623869G>C , CM000681.1:g.7623869G>C	GRCh37
NC_000019.8:g.7529869G>C	NCBI36
NG_013374.1:g.29832G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.3531G>C MANE Select	NP_001159586.1:p.Trp1177Cys
ENST00000600737.6:c.3531G>C MANE Select	ENSP00000473211.1:p.Trp1177Cys
NM_001166111.1:c.3561G>C	NP_001159583.1:p.Trp1187Cys
NM_001166111.2:c.3561G>C	NP_001159583.1:p.Trp1187Cys
NM_001166112.1:c.3336G>C	NP_001159584.1:p.Trp1112Cys
NM_001166112.2:c.3336G>C	NP_001159584.1:p.Trp1112Cys
NM_001166113.1:c.3417G>C	NP_001159585.1:p.Trp1139Cys
NM_001166114.1:c.3531G>C	NP_001159586.1:p.Trp1177Cys
NM_006702.4:c.3417G>C	NP_006693.3:p.Trp1139Cys
NM_006702.5:c.3417G>C	NP_006693.3:p.Trp1139Cys
ENST00000221249.10:c.3417G>C	ENSP00000221249.5:p.Trp1139Cys
ENST00000414982.7:c.3561G>C	ENSP00000407509.2:p.Trp1187Cys
ENST00000450331.7:c.3417G>C	ENSP00000394348.2:p.Trp1139Cys
ENST00000545201.6:c.3336G>C	ENSP00000443323.1:p.Trp1112Cys
ENST00000599947.1:c.17G>C
ENST00000600737.5:c.3531G>C	ENSP00000473211.1:p.Trp1177Cys