Canonical Allele Identifier: CA403138638

Gene: PNPLA6

Linked Data

• dbSNP Id: rs758549829
• gnomAD v2: 19-7625967-C-A
• gnomAD v4: 19-7561081-C-A
• MyVariant Identifiers: chr19:g.7625967C>A (hg19) ; chr19:g.7561081C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561081C>A , CM000681.2:g.7561081C>A	GRCh38
NC_000019.9:g.7625967C>A , CM000681.1:g.7625967C>A	GRCh37
NC_000019.8:g.7531967C>A	NCBI36
NG_013374.1:g.31930C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3884C>A MANE Select	ENSP00000473211.1:p.Thr1295Lys
ENST00000221249.10:c.3770C>A	ENSP00000221249.5:p.Thr1257Lys
ENST00000414982.7:c.3914C>A	ENSP00000407509.2:p.Thr1305Lys
ENST00000450331.7:c.3770C>A	ENSP00000394348.2:p.Thr1257Lys
ENST00000545201.6:c.3689C>A	ENSP00000443323.1:p.Thr1230Lys
ENST00000597202.1:n.242C>A
ENST00000599947.1:c.253C>A
ENST00000600737.5:c.3884C>A	ENSP00000473211.1:p.Thr1295Lys
NM_001166111.1:c.3914C>A	NP_001159583.1:p.Thr1305Lys
NM_001166112.1:c.3689C>A	NP_001159584.1:p.Thr1230Lys
NM_001166113.1:c.3770C>A	NP_001159585.1:p.Thr1257Lys
NM_001166114.1:c.3884C>A	NP_001159586.1:p.Thr1295Lys
NM_006702.4:c.3770C>A	NP_006693.3:p.Thr1257Lys
NM_001166111.2:c.3914C>A	NP_001159583.1:p.Thr1305Lys
NM_001166114.2:c.3884C>A MANE Select	NP_001159586.1:p.Thr1295Lys
NM_006702.5:c.3770C>A	NP_006693.3:p.Thr1257Lys
NM_001166112.2:c.3689C>A	NP_001159584.1:p.Thr1230Lys