Canonical Allele Identifier: CA403138038
Gene: PNPLA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 445982
dbSNP Id: rs1490826010
gnomAD v2: 19-7625651-G-A
gnomAD v3: 19-7560765-G-A
gnomAD v4: 19-7560765-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7560765G>A , CM000681.2:g.7560765G>A GRCh38
NC_000019.9:g.7625651G>A , CM000681.1:g.7625651G>A GRCh37
NC_000019.8:g.7531651G>A NCBI36
NG_013374.1:g.31614G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.3816+1G>A MANE Select ENSP00000473211.1:n.3816+1G>A
ENST00000221249.10:c.3702+1G>A ENSP00000221249.5:n.3702+1G>A
ENST00000414982.7:c.3846+1G>A ENSP00000407509.2:n.3846+1G>A
ENST00000450331.7:c.3702+1G>A ENSP00000394348.2:n.3702+1G>A
ENST00000545201.6:c.3621+1G>A ENSP00000443323.1:n.3621+1G>A
ENST00000597202.1:n.174+1G>A
ENST00000599947.1:c.186-249G>A
ENST00000600737.5:c.3816+1G>A ENSP00000473211.1:n.3816+1G>A
NM_001166111.1:c.3846+1G>A NP_001159583.1:n.3846+1G>A
NM_001166112.1:c.3621+1G>A NP_001159584.1:n.3621+1G>A
NM_001166113.1:c.3702+1G>A NP_001159585.1:n.3702+1G>A
NM_001166114.1:c.3816+1G>A NP_001159586.1:n.3816+1G>A
NM_006702.4:c.3702+1G>A NP_006693.3:n.3702+1G>A
NM_001166111.2:c.3846+1G>A NP_001159583.1:n.3846+1G>A
NM_001166114.2:c.3816+1G>A MANE Select NP_001159586.1:n.3816+1G>A
NM_006702.5:c.3702+1G>A NP_006693.3:n.3702+1G>A
NM_001166112.2:c.3621+1G>A NP_001159584.1:n.3621+1G>A