Canonical Allele Identifier: CA16043563

Gene: PNPLA6

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7541025C>G , CM000681.2:g.7541025C>G	GRCh38
NC_000019.9:g.7605911C>G , CM000681.1:g.7605911C>G	GRCh37
NC_000019.8:g.7511911C>G	NCBI36
NG_013374.1:g.11874C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.898C>G MANE Select	ENSP00000473211.1:p.Pro300Ala
ENST00000221249.10:c.781C>G	ENSP00000221249.5:p.Pro261Ala
ENST00000414982.7:c.925C>G	ENSP00000407509.2:p.Pro309Ala
ENST00000450331.7:c.781C>G	ENSP00000394348.2:p.Pro261Ala
ENST00000545201.6:c.781C>G	ENSP00000443323.1:p.Pro261Ala
ENST00000594551.1:c.356C>G
ENST00000595264.5:c.420C>G
ENST00000600737.5:c.898C>G	ENSP00000473211.1:p.Pro300Ala
NM_001166111.1:c.925C>G	NP_001159583.1:p.Pro309Ala
NM_001166112.1:c.781C>G	NP_001159584.1:p.Pro261Ala
NM_001166113.1:c.781C>G	NP_001159585.1:p.Pro261Ala
NM_001166114.1:c.898C>G	NP_001159586.1:p.Pro300Ala
NM_006702.4:c.781C>G	NP_006693.3:p.Pro261Ala
NM_001166111.2:c.925C>G	NP_001159583.1:p.Pro309Ala
NM_001166114.2:c.898C>G MANE Select	NP_001159586.1:p.Pro300Ala
NM_006702.5:c.781C>G	NP_006693.3:p.Pro261Ala
NM_001166112.2:c.781C>G	NP_001159584.1:p.Pro261Ala