Canonical Allele Identifier: CA505404317

Gene: PNPLA6

Linked Data

• MyVariant Identifiers: chr19:g.7625932C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561046C>T , CM000681.2:g.7561046C>T	GRCh38
NC_000019.9:g.7625932C>T , CM000681.1:g.7625932C>T	GRCh37
NC_000019.8:g.7531932C>T	NCBI36
NG_013374.1:g.31895C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000600737.6:c.3849C>T MANE Select	ENSP00000473211.1:p.Asp1283=
ENST00000221249.10:c.3735C>T	ENSP00000221249.5:p.Asp1245=
ENST00000414982.7:c.3879C>T	ENSP00000407509.2:p.Asp1293=
ENST00000450331.7:c.3735C>T	ENSP00000394348.2:p.Asp1245=
ENST00000545201.6:c.3654C>T	ENSP00000443323.1:p.Asp1218=
ENST00000597202.1:n.207C>T
ENST00000599947.1:c.218C>T
ENST00000600737.5:c.3849C>T	ENSP00000473211.1:p.Asp1283=
NM_001166111.1:c.3879C>T	NP_001159583.1:p.Asp1293=
NM_001166112.1:c.3654C>T	NP_001159584.1:p.Asp1218=
NM_001166113.1:c.3735C>T	NP_001159585.1:p.Asp1245=
NM_001166114.1:c.3849C>T	NP_001159586.1:p.Asp1283=
NM_006702.4:c.3735C>T	NP_006693.3:p.Asp1245=
NM_001166111.2:c.3879C>T	NP_001159583.1:p.Asp1293=
NM_001166114.2:c.3849C>T MANE Select	NP_001159586.1:p.Asp1283=
NM_006702.5:c.3735C>T	NP_006693.3:p.Asp1245=
NM_001166112.2:c.3654C>T	NP_001159584.1:p.Asp1218=