Canonical Allele Identifier: CA505404324

Gene: PNPLA6

Linked Data

• MyVariant Identifiers: chr19:g.7625944T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561058T>A , CM000681.2:g.7561058T>A	GRCh38
NC_000019.9:g.7625944T>A , CM000681.1:g.7625944T>A	GRCh37
NC_000019.8:g.7531944T>A	NCBI36
NG_013374.1:g.31907T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3861T>A MANE Select	ENSP00000473211.1:p.Ile1287=
ENST00000221249.10:c.3747T>A	ENSP00000221249.5:p.Ile1249=
ENST00000414982.7:c.3891T>A	ENSP00000407509.2:p.Ile1297=
ENST00000450331.7:c.3747T>A	ENSP00000394348.2:p.Ile1249=
ENST00000545201.6:c.3666T>A	ENSP00000443323.1:p.Ile1222=
ENST00000597202.1:n.219T>A
ENST00000599947.1:c.230T>A
ENST00000600737.5:c.3861T>A	ENSP00000473211.1:p.Ile1287=
NM_001166111.1:c.3891T>A	NP_001159583.1:p.Ile1297=
NM_001166112.1:c.3666T>A	NP_001159584.1:p.Ile1222=
NM_001166113.1:c.3747T>A	NP_001159585.1:p.Ile1249=
NM_001166114.1:c.3861T>A	NP_001159586.1:p.Ile1287=
NM_006702.4:c.3747T>A	NP_006693.3:p.Ile1249=
NM_001166111.2:c.3891T>A	NP_001159583.1:p.Ile1297=
NM_001166114.2:c.3861T>A MANE Select	NP_001159586.1:p.Ile1287=
NM_006702.5:c.3747T>A	NP_006693.3:p.Ile1249=
NM_001166112.2:c.3666T>A	NP_001159584.1:p.Ile1222=