Canonical Allele Identifier: CA403138491

Gene: PNPLA6

Linked Data

• COSMIC: COSM713909 ; COSM1647009
• MyVariant Identifiers: chr19:g.7625941G>C (hg19) ; chr19:g.7561055G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561055G>C , CM000681.2:g.7561055G>C	GRCh38
NC_000019.9:g.7625941G>C , CM000681.1:g.7625941G>C	GRCh37
NC_000019.8:g.7531941G>C	NCBI36
NG_013374.1:g.31904G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000600737.6:c.3858G>C MANE Select	ENSP00000473211.1:p.Glu1286Asp
ENST00000221249.10:c.3744G>C	ENSP00000221249.5:p.Glu1248Asp
ENST00000414982.7:c.3888G>C	ENSP00000407509.2:p.Glu1296Asp
ENST00000450331.7:c.3744G>C	ENSP00000394348.2:p.Glu1248Asp
ENST00000545201.6:c.3663G>C	ENSP00000443323.1:p.Glu1221Asp
ENST00000597202.1:n.216G>C
ENST00000599947.1:c.227G>C
ENST00000600737.5:c.3858G>C	ENSP00000473211.1:p.Glu1286Asp
NM_001166111.1:c.3888G>C	NP_001159583.1:p.Glu1296Asp
NM_001166112.1:c.3663G>C	NP_001159584.1:p.Glu1221Asp
NM_001166113.1:c.3744G>C	NP_001159585.1:p.Glu1248Asp
NM_001166114.1:c.3858G>C	NP_001159586.1:p.Glu1286Asp
NM_006702.4:c.3744G>C	NP_006693.3:p.Glu1248Asp
NM_001166111.2:c.3888G>C	NP_001159583.1:p.Glu1296Asp
NM_001166114.2:c.3858G>C MANE Select	NP_001159586.1:p.Glu1286Asp
NM_006702.5:c.3744G>C	NP_006693.3:p.Glu1248Asp
NM_001166112.2:c.3663G>C	NP_001159584.1:p.Glu1221Asp