Canonical Allele Identifier: CA403137565

Gene: PNPLA6

Linked Data

• MyVariant Identifiers: chr19:g.7625576A>T (hg19) ; chr19:g.7560690A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560690A>T , CM000681.2:g.7560690A>T	GRCh38
NC_000019.9:g.7625576A>T , CM000681.1:g.7625576A>T	GRCh37
NC_000019.8:g.7531576A>T	NCBI36
NG_013374.1:g.31539A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3742A>T MANE Select	ENSP00000473211.1:p.Ser1248Cys
ENST00000221249.10:c.3628A>T	ENSP00000221249.5:p.Ser1210Cys
ENST00000414982.7:c.3772A>T	ENSP00000407509.2:p.Ser1258Cys
ENST00000450331.7:c.3628A>T	ENSP00000394348.2:p.Ser1210Cys
ENST00000545201.6:c.3547A>T	ENSP00000443323.1:p.Ser1183Cys
ENST00000597202.1:n.100A>T
ENST00000599947.1:c.186-324A>T
ENST00000600737.5:c.3742A>T	ENSP00000473211.1:p.Ser1248Cys
NM_001166111.1:c.3772A>T	NP_001159583.1:p.Ser1258Cys
NM_001166112.1:c.3547A>T	NP_001159584.1:p.Ser1183Cys
NM_001166113.1:c.3628A>T	NP_001159585.1:p.Ser1210Cys
NM_001166114.1:c.3742A>T	NP_001159586.1:p.Ser1248Cys
NM_006702.4:c.3628A>T	NP_006693.3:p.Ser1210Cys
NM_001166111.2:c.3772A>T	NP_001159583.1:p.Ser1258Cys
NM_001166114.2:c.3742A>T MANE Select	NP_001159586.1:p.Ser1248Cys
NM_006702.5:c.3628A>T	NP_006693.3:p.Ser1210Cys
NM_001166112.2:c.3547A>T	NP_001159584.1:p.Ser1183Cys