Canonical Allele Identifier: CA2576598061

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7560602-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560602G>A , CM000681.2:g.7560602G>A	GRCh38
NC_000019.9:g.7625488G>A , CM000681.1:g.7625488G>A	GRCh37
NC_000019.8:g.7531488G>A	NCBI36
NG_013374.1:g.31451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3700-46G>A MANE Select	ENSP00000473211.1:n.3700-46G>A
ENST00000221249.10:c.3586-46G>A	ENSP00000221249.5:n.3586-46G>A
ENST00000414982.7:c.3730-46G>A	ENSP00000407509.2:n.3730-46G>A
ENST00000450331.7:c.3586-46G>A	ENSP00000394348.2:n.3586-46G>A
ENST00000545201.6:c.3505-46G>A	ENSP00000443323.1:n.3505-46G>A
ENST00000597202.1:n.12G>A
ENST00000599947.1:c.186-412G>A
ENST00000600737.5:c.3700-46G>A	ENSP00000473211.1:n.3700-46G>A
NM_001166111.1:c.3730-46G>A	NP_001159583.1:n.3730-46G>A
NM_001166112.1:c.3505-46G>A	NP_001159584.1:n.3505-46G>A
NM_001166113.1:c.3586-46G>A	NP_001159585.1:n.3586-46G>A
NM_001166114.1:c.3700-46G>A	NP_001159586.1:n.3700-46G>A
NM_006702.4:c.3586-46G>A	NP_006693.3:n.3586-46G>A
NM_001166111.2:c.3730-46G>A	NP_001159583.1:n.3730-46G>A
NM_001166114.2:c.3700-46G>A MANE Select	NP_001159586.1:n.3700-46G>A
NM_006702.5:c.3586-46G>A	NP_006693.3:n.3586-46G>A
NM_001166112.2:c.3505-46G>A	NP_001159584.1:n.3505-46G>A