Canonical Allele Identifier: CA403138509

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7561059-G-A
• MyVariant Identifiers: chr19:g.7625945G>A (hg19) ; chr19:g.7561059G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561059G>A , CM000681.2:g.7561059G>A	GRCh38
NC_000019.9:g.7625945G>A , CM000681.1:g.7625945G>A	GRCh37
NC_000019.8:g.7531945G>A	NCBI36
NG_013374.1:g.31908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3862G>A MANE Select	ENSP00000473211.1:p.Val1288Met
ENST00000221249.10:c.3748G>A	ENSP00000221249.5:p.Val1250Met
ENST00000414982.7:c.3892G>A	ENSP00000407509.2:p.Val1298Met
ENST00000450331.7:c.3748G>A	ENSP00000394348.2:p.Val1250Met
ENST00000545201.6:c.3667G>A	ENSP00000443323.1:p.Val1223Met
ENST00000597202.1:n.220G>A
ENST00000599947.1:c.231G>A
ENST00000600737.5:c.3862G>A	ENSP00000473211.1:p.Val1288Met
NM_001166111.1:c.3892G>A	NP_001159583.1:p.Val1298Met
NM_001166112.1:c.3667G>A	NP_001159584.1:p.Val1223Met
NM_001166113.1:c.3748G>A	NP_001159585.1:p.Val1250Met
NM_001166114.1:c.3862G>A	NP_001159586.1:p.Val1288Met
NM_006702.4:c.3748G>A	NP_006693.3:p.Val1250Met
NM_001166111.2:c.3892G>A	NP_001159583.1:p.Val1298Met
NM_001166114.2:c.3862G>A MANE Select	NP_001159586.1:p.Val1288Met
NM_006702.5:c.3748G>A	NP_006693.3:p.Val1250Met
NM_001166112.2:c.3667G>A	NP_001159584.1:p.Val1223Met