Canonical Allele Identifier: CA403139086

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 3216072
• ClinVar RCV Id: RCV004511957
• gnomAD v4: 19-7561226-T-C
• MyVariant Identifiers: chr19:g.7626112T>C (hg19) ; chr19:g.7561226T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561226T>C , CM000681.2:g.7561226T>C	GRCh38
NC_000019.9:g.7626112T>C , CM000681.1:g.7626112T>C	GRCh37
NC_000019.8:g.7532112T>C	NCBI36
NG_013374.1:g.32075T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3932T>C MANE Select	ENSP00000473211.1:p.Leu1311Pro
ENST00000221249.10:c.3818T>C	ENSP00000221249.5:p.Leu1273Pro
ENST00000414982.7:c.3962T>C	ENSP00000407509.2:p.Leu1321Pro
ENST00000450331.7:c.3818T>C	ENSP00000394348.2:p.Leu1273Pro
ENST00000545201.6:c.3737T>C	ENSP00000443323.1:p.Leu1246Pro
ENST00000597202.1:n.290T>C
ENST00000599947.1:c.301T>C
ENST00000600737.5:c.3932T>C	ENSP00000473211.1:p.Leu1311Pro
NM_001166111.1:c.3962T>C	NP_001159583.1:p.Leu1321Pro
NM_001166112.1:c.3737T>C	NP_001159584.1:p.Leu1246Pro
NM_001166113.1:c.3818T>C	NP_001159585.1:p.Leu1273Pro
NM_001166114.1:c.3932T>C	NP_001159586.1:p.Leu1311Pro
NM_006702.4:c.3818T>C	NP_006693.3:p.Leu1273Pro
NM_001166111.2:c.3962T>C	NP_001159583.1:p.Leu1321Pro
NM_001166114.2:c.3932T>C MANE Select	NP_001159586.1:p.Leu1311Pro
NM_006702.5:c.3818T>C	NP_006693.3:p.Leu1273Pro
NM_001166112.2:c.3737T>C	NP_001159584.1:p.Leu1246Pro