Canonical Allele Identifier: CA403137847

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7560738-G-C
• MyVariant Identifiers: chr19:g.7625624G>C (hg19) ; chr19:g.7560738G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560738G>C , CM000681.2:g.7560738G>C	GRCh38
NC_000019.9:g.7625624G>C , CM000681.1:g.7625624G>C	GRCh37
NC_000019.8:g.7531624G>C	NCBI36
NG_013374.1:g.31587G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3790G>C MANE Select	ENSP00000473211.1:p.Asp1264His
ENST00000221249.10:c.3676G>C	ENSP00000221249.5:p.Asp1226His
ENST00000414982.7:c.3820G>C	ENSP00000407509.2:p.Asp1274His
ENST00000450331.7:c.3676G>C	ENSP00000394348.2:p.Asp1226His
ENST00000545201.6:c.3595G>C	ENSP00000443323.1:p.Asp1199His
ENST00000597202.1:n.148G>C
ENST00000599947.1:c.186-276G>C
ENST00000600737.5:c.3790G>C	ENSP00000473211.1:p.Asp1264His
NM_001166111.1:c.3820G>C	NP_001159583.1:p.Asp1274His
NM_001166112.1:c.3595G>C	NP_001159584.1:p.Asp1199His
NM_001166113.1:c.3676G>C	NP_001159585.1:p.Asp1226His
NM_001166114.1:c.3790G>C	NP_001159586.1:p.Asp1264His
NM_006702.4:c.3676G>C	NP_006693.3:p.Asp1226His
NM_001166111.2:c.3820G>C	NP_001159583.1:p.Asp1274His
NM_001166114.2:c.3790G>C MANE Select	NP_001159586.1:p.Asp1264His
NM_006702.5:c.3676G>C	NP_006693.3:p.Asp1226His
NM_001166112.2:c.3595G>C	NP_001159584.1:p.Asp1199His