Canonical Allele Identifier: CA403129950

Gene: PNPLA6

Linked Data

• dbSNP Id: rs373118087
• gnomAD v2: 19-7619907-C-A
• gnomAD v3: 19-7555021-C-A
• gnomAD v4: 19-7555021-C-A
• MyVariant Identifiers: chr19:g.7619907C>A (hg19) ; chr19:g.7555021C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7555021C>A , CM000681.2:g.7555021C>A	GRCh38
NC_000019.9:g.7619907C>A , CM000681.1:g.7619907C>A	GRCh37
NC_000019.8:g.7525907C>A	NCBI36
NG_013374.1:g.25870C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.2763C>A MANE Select	ENSP00000473211.1:p.His921Gln
ENST00000221249.10:c.2649C>A	ENSP00000221249.5:p.His883Gln
ENST00000414982.7:c.2793C>A	ENSP00000407509.2:p.His931Gln
ENST00000450331.7:c.2649C>A	ENSP00000394348.2:p.His883Gln
ENST00000545201.6:c.2568C>A	ENSP00000443323.1:p.His856Gln
ENST00000600737.5:c.2763C>A	ENSP00000473211.1:p.His921Gln
NM_001166111.1:c.2793C>A	NP_001159583.1:p.His931Gln
NM_001166112.1:c.2568C>A	NP_001159584.1:p.His856Gln
NM_001166113.1:c.2649C>A	NP_001159585.1:p.His883Gln
NM_001166114.1:c.2763C>A	NP_001159586.1:p.His921Gln
NM_006702.4:c.2649C>A	NP_006693.3:p.His883Gln
NM_001166111.2:c.2793C>A	NP_001159583.1:p.His931Gln
NM_001166114.2:c.2763C>A MANE Select	NP_001159586.1:p.His921Gln
NM_006702.5:c.2649C>A	NP_006693.3:p.His883Gln
NM_001166112.2:c.2568C>A	NP_001159584.1:p.His856Gln