Canonical Allele Identifier: CA9140594

Gene: PNPLA6

Linked Data

• dbSNP Id: rs775226137
• ExAC: 19:7625863 G / GC
• gnomAD v2: 19-7625863-G-GC
• gnomAD v3: 19-7560977-G-GC
• gnomAD v4: 19-7560977-G-GC
• MyVariant Identifiers: chr19:g.7625863_7625864insC (hg19) ; chr19:g.7560977_7560978insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560977_7560978insC , CM000681.2:g.7560977_7560978insC	GRCh38
NC_000019.9:g.7625863_7625864insC , CM000681.1:g.7625863_7625864insC	GRCh37
NC_000019.8:g.7531863_7531864insC	NCBI36
NG_013374.1:g.31826_31827insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3817-37_3817-36insC MANE Select	ENSP00000473211.1:n.3817-37_3817-36insC
ENST00000221249.10:c.3703-37_3703-36insC	ENSP00000221249.5:n.3703-37_3703-36insC
ENST00000414982.7:c.3847-37_3847-36insC	ENSP00000407509.2:n.3847-37_3847-36insC
ENST00000450331.7:c.3703-37_3703-36insC	ENSP00000394348.2:n.3703-37_3703-36insC
ENST00000545201.6:c.3622-37_3622-36insC	ENSP00000443323.1:n.3622-37_3622-36insC
ENST00000597202.1:n.175-37_175-36insC
ENST00000599947.1:c.186-37_186-36insC
ENST00000600737.5:c.3817-37_3817-36insC	ENSP00000473211.1:n.3817-37_3817-36insC
NM_001166111.1:c.3847-37_3847-36insC	NP_001159583.1:n.3847-37_3847-36insC
NM_001166112.1:c.3622-37_3622-36insC	NP_001159584.1:n.3622-37_3622-36insC
NM_001166113.1:c.3703-37_3703-36insC	NP_001159585.1:n.3703-37_3703-36insC
NM_001166114.1:c.3817-37_3817-36insC	NP_001159586.1:n.3817-37_3817-36insC
NM_006702.4:c.3703-37_3703-36insC	NP_006693.3:n.3703-37_3703-36insC
NM_001166111.2:c.3847-37_3847-36insC	NP_001159583.1:n.3847-37_3847-36insC
NM_001166114.2:c.3817-37_3817-36insC MANE Select	NP_001159586.1:n.3817-37_3817-36insC
NM_006702.5:c.3703-37_3703-36insC	NP_006693.3:n.3703-37_3703-36insC
NM_001166112.2:c.3622-37_3622-36insC	NP_001159584.1:n.3622-37_3622-36insC