Canonical Allele Identifier: CA9140538

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 537337
• ClinVar RCV Id: RCV000646163
• dbSNP Id: rs201144113
• ExAC: 19:7624046 G / A
• gnomAD v2: 19-7624046-G-A
• gnomAD v3: 19-7559160-G-A
• gnomAD v4: 19-7559160-G-A
• MyVariant Identifiers: chr19:g.7624046G>A (hg19) ; chr19:g.7559160G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7559160G>A , CM000681.2:g.7559160G>A	GRCh38
NC_000019.9:g.7624046G>A , CM000681.1:g.7624046G>A	GRCh37
NC_000019.8:g.7530046G>A	NCBI36
NG_013374.1:g.30009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3699+9G>A MANE Select	ENSP00000473211.1:n.3699+9G>A
ENST00000221249.10:c.3585+9G>A	ENSP00000221249.5:n.3585+9G>A
ENST00000414982.7:c.3729+9G>A	ENSP00000407509.2:n.3729+9G>A
ENST00000450331.7:c.3585+9G>A	ENSP00000394348.2:n.3585+9G>A
ENST00000545201.6:c.3504+9G>A	ENSP00000443323.1:n.3504+9G>A
ENST00000599947.1:c.185+9G>A
ENST00000600737.5:c.3699+9G>A	ENSP00000473211.1:n.3699+9G>A
NM_001166111.1:c.3729+9G>A	NP_001159583.1:n.3729+9G>A
NM_001166112.1:c.3504+9G>A	NP_001159584.1:n.3504+9G>A
NM_001166113.1:c.3585+9G>A	NP_001159585.1:n.3585+9G>A
NM_001166114.1:c.3699+9G>A	NP_001159586.1:n.3699+9G>A
NM_006702.4:c.3585+9G>A	NP_006693.3:n.3585+9G>A
NM_001166111.2:c.3729+9G>A	NP_001159583.1:n.3729+9G>A
NM_001166114.2:c.3699+9G>A MANE Select	NP_001159586.1:n.3699+9G>A
NM_006702.5:c.3585+9G>A	NP_006693.3:n.3585+9G>A
NM_001166112.2:c.3504+9G>A	NP_001159584.1:n.3504+9G>A