Canonical Allele Identifier: CA403133707

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7557183A>G , CM000681.2:g.7557183A>G	GRCh38
NC_000019.9:g.7622069A>G , CM000681.1:g.7622069A>G	GRCh37
NC_000019.8:g.7528069A>G	NCBI36
NG_013374.1:g.28032A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.3296A>G MANE Select	NP_001159586.1:p.Tyr1099Cys
ENST00000600737.6:c.3296A>G MANE Select	ENSP00000473211.1:p.Tyr1099Cys
NM_001166111.1:c.3326A>G	NP_001159583.1:p.Tyr1109Cys
NM_001166111.2:c.3326A>G	NP_001159583.1:p.Tyr1109Cys
NM_001166112.1:c.3101A>G	NP_001159584.1:p.Tyr1034Cys
NM_001166112.2:c.3101A>G	NP_001159584.1:p.Tyr1034Cys
NM_001166113.1:c.3182A>G	NP_001159585.1:p.Tyr1061Cys
NM_001166114.1:c.3296A>G	NP_001159586.1:p.Tyr1099Cys
NM_006702.4:c.3182A>G	NP_006693.3:p.Tyr1061Cys
NM_006702.5:c.3182A>G	NP_006693.3:p.Tyr1061Cys
ENST00000221249.10:c.3182A>G	ENSP00000221249.5:p.Tyr1061Cys
ENST00000414982.7:c.3326A>G	ENSP00000407509.2:p.Tyr1109Cys
ENST00000450331.7:c.3182A>G	ENSP00000394348.2:p.Tyr1061Cys
ENST00000545201.6:c.3101A>G	ENSP00000443323.1:p.Tyr1034Cys
ENST00000595352.1:n.227A>G
ENST00000600737.5:c.3296A>G	ENSP00000473211.1:p.Tyr1099Cys
ENST00000646984.1:c.568+101A>G	ENSP00000496219.1:n.568+101A>G