Canonical Allele Identifier: CA2587958183

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7560656-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560657dup , CM000681.2:g.7560657dup	GRCh38
NC_000019.9:g.7625543dup , CM000681.1:g.7625543dup	GRCh37
NC_000019.8:g.7531543dup	NCBI36
NG_013374.1:g.31506dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3709dup MANE Select	ENSP00000473211.1:p.Tyr1237LeufsTer18
ENST00000221249.10:c.3595dup	ENSP00000221249.5:p.Tyr1199LeufsTer18
ENST00000414982.7:c.3739dup	ENSP00000407509.2:p.Tyr1247LeufsTer18
ENST00000450331.7:c.3595dup	ENSP00000394348.2:p.Tyr1199LeufsTer18
ENST00000545201.6:c.3514dup	ENSP00000443323.1:p.Tyr1172LeufsTer18
ENST00000597202.1:n.67dup
ENST00000599947.1:c.186-357dup
ENST00000600737.5:c.3709dup	ENSP00000473211.1:p.Tyr1237LeufsTer18
NM_001166111.1:c.3739dup	NP_001159583.1:p.Tyr1247LeufsTer18
NM_001166112.1:c.3514dup	NP_001159584.1:p.Tyr1172LeufsTer18
NM_001166113.1:c.3595dup	NP_001159585.1:p.Tyr1199LeufsTer18
NM_001166114.1:c.3709dup	NP_001159586.1:p.Tyr1237LeufsTer18
NM_006702.4:c.3595dup	NP_006693.3:p.Tyr1199LeufsTer18
NM_001166111.2:c.3739dup	NP_001159583.1:p.Tyr1247LeufsTer18
NM_001166114.2:c.3709dup MANE Select	NP_001159586.1:p.Tyr1237LeufsTer18
NM_006702.5:c.3595dup	NP_006693.3:p.Tyr1199LeufsTer18
NM_001166112.2:c.3514dup	NP_001159584.1:p.Tyr1172LeufsTer18