Canonical Allele Identifier: CA505404199

Gene: PNPLA6

Linked Data

• dbSNP Id: rs2023805935
• gnomAD v4: 19-7554940-A-G
• MyVariant Identifiers: chr19:g.7619826A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7554940A>G , CM000681.2:g.7554940A>G	GRCh38
NC_000019.9:g.7619826A>G , CM000681.1:g.7619826A>G	GRCh37
NC_000019.8:g.7525826A>G	NCBI36
NG_013374.1:g.25789A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.2682A>G MANE Select	ENSP00000473211.1:p.Leu894=
ENST00000221249.10:c.2568A>G	ENSP00000221249.5:p.Leu856=
ENST00000414982.7:c.2712A>G	ENSP00000407509.2:p.Leu904=
ENST00000450331.7:c.2568A>G	ENSP00000394348.2:p.Leu856=
ENST00000545201.6:c.2487A>G	ENSP00000443323.1:p.Leu829=
ENST00000600737.5:c.2682A>G	ENSP00000473211.1:p.Leu894=
NM_001166111.1:c.2712A>G	NP_001159583.1:p.Leu904=
NM_001166112.1:c.2487A>G	NP_001159584.1:p.Leu829=
NM_001166113.1:c.2568A>G	NP_001159585.1:p.Leu856=
NM_001166114.1:c.2682A>G	NP_001159586.1:p.Leu894=
NM_006702.4:c.2568A>G	NP_006693.3:p.Leu856=
NM_001166111.2:c.2712A>G	NP_001159583.1:p.Leu904=
NM_001166114.2:c.2682A>G MANE Select	NP_001159586.1:p.Leu894=
NM_006702.5:c.2568A>G	NP_006693.3:p.Leu856=
NM_001166112.2:c.2487A>G	NP_001159584.1:p.Leu829=