Canonical Allele Identifier: CA403137871

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7560742-T-A
• MyVariant Identifiers: chr19:g.7625628T>A (hg19) ; chr19:g.7560742T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560742T>A , CM000681.2:g.7560742T>A	GRCh38
NC_000019.9:g.7625628T>A , CM000681.1:g.7625628T>A	GRCh37
NC_000019.8:g.7531628T>A	NCBI36
NG_013374.1:g.31591T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3794T>A MANE Select	ENSP00000473211.1:p.Leu1265His
ENST00000221249.10:c.3680T>A	ENSP00000221249.5:p.Leu1227His
ENST00000414982.7:c.3824T>A	ENSP00000407509.2:p.Leu1275His
ENST00000450331.7:c.3680T>A	ENSP00000394348.2:p.Leu1227His
ENST00000545201.6:c.3599T>A	ENSP00000443323.1:p.Leu1200His
ENST00000597202.1:n.152T>A
ENST00000599947.1:c.186-272T>A
ENST00000600737.5:c.3794T>A	ENSP00000473211.1:p.Leu1265His
NM_001166111.1:c.3824T>A	NP_001159583.1:p.Leu1275His
NM_001166112.1:c.3599T>A	NP_001159584.1:p.Leu1200His
NM_001166113.1:c.3680T>A	NP_001159585.1:p.Leu1227His
NM_001166114.1:c.3794T>A	NP_001159586.1:p.Leu1265His
NM_006702.4:c.3680T>A	NP_006693.3:p.Leu1227His
NM_001166111.2:c.3824T>A	NP_001159583.1:p.Leu1275His
NM_001166114.2:c.3794T>A MANE Select	NP_001159586.1:p.Leu1265His
NM_006702.5:c.3680T>A	NP_006693.3:p.Leu1227His
NM_001166112.2:c.3599T>A	NP_001159584.1:p.Leu1200His