Canonical Allele Identifier: CA403138004

Gene: PNPLA6

Linked Data

• MyVariant Identifiers: chr19:g.7625648G>C (hg19) ; chr19:g.7560762G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560762G>C , CM000681.2:g.7560762G>C	GRCh38
NC_000019.9:g.7625648G>C , CM000681.1:g.7625648G>C	GRCh37
NC_000019.8:g.7531648G>C	NCBI36
NG_013374.1:g.31611G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3814G>C MANE Select	ENSP00000473211.1:p.Asp1272His
ENST00000221249.10:c.3700G>C	ENSP00000221249.5:p.Asp1234His
ENST00000414982.7:c.3844G>C	ENSP00000407509.2:p.Asp1282His
ENST00000450331.7:c.3700G>C	ENSP00000394348.2:p.Asp1234His
ENST00000545201.6:c.3619G>C	ENSP00000443323.1:p.Asp1207His
ENST00000597202.1:n.172G>C
ENST00000599947.1:c.186-252G>C
ENST00000600737.5:c.3814G>C	ENSP00000473211.1:p.Asp1272His
NM_001166111.1:c.3844G>C	NP_001159583.1:p.Asp1282His
NM_001166112.1:c.3619G>C	NP_001159584.1:p.Asp1207His
NM_001166113.1:c.3700G>C	NP_001159585.1:p.Asp1234His
NM_001166114.1:c.3814G>C	NP_001159586.1:p.Asp1272His
NM_006702.4:c.3700G>C	NP_006693.3:p.Asp1234His
NM_001166111.2:c.3844G>C	NP_001159583.1:p.Asp1282His
NM_001166114.2:c.3814G>C MANE Select	NP_001159586.1:p.Asp1272His
NM_006702.5:c.3700G>C	NP_006693.3:p.Asp1234His
NM_001166112.2:c.3619G>C	NP_001159584.1:p.Asp1207His