Canonical Allele Identifier: CA403138441

Gene: PNPLA6

Linked Data

• MyVariant Identifiers: chr19:g.7625934T>G (hg19) ; chr19:g.7561048T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561048T>G , CM000681.2:g.7561048T>G	GRCh38
NC_000019.9:g.7625934T>G , CM000681.1:g.7625934T>G	GRCh37
NC_000019.8:g.7531934T>G	NCBI36
NG_013374.1:g.31897T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000600737.6:c.3851T>G MANE Select	ENSP00000473211.1:p.Leu1284Trp
ENST00000221249.10:c.3737T>G	ENSP00000221249.5:p.Leu1246Trp
ENST00000414982.7:c.3881T>G	ENSP00000407509.2:p.Leu1294Trp
ENST00000450331.7:c.3737T>G	ENSP00000394348.2:p.Leu1246Trp
ENST00000545201.6:c.3656T>G	ENSP00000443323.1:p.Leu1219Trp
ENST00000597202.1:n.209T>G
ENST00000599947.1:c.220T>G
ENST00000600737.5:c.3851T>G	ENSP00000473211.1:p.Leu1284Trp
NM_001166111.1:c.3881T>G	NP_001159583.1:p.Leu1294Trp
NM_001166112.1:c.3656T>G	NP_001159584.1:p.Leu1219Trp
NM_001166113.1:c.3737T>G	NP_001159585.1:p.Leu1246Trp
NM_001166114.1:c.3851T>G	NP_001159586.1:p.Leu1284Trp
NM_006702.4:c.3737T>G	NP_006693.3:p.Leu1246Trp
NM_001166111.2:c.3881T>G	NP_001159583.1:p.Leu1294Trp
NM_001166114.2:c.3851T>G MANE Select	NP_001159586.1:p.Leu1284Trp
NM_006702.5:c.3737T>G	NP_006693.3:p.Leu1246Trp
NM_001166112.2:c.3656T>G	NP_001159584.1:p.Leu1219Trp