Canonical Allele Identifier: CA9139524
Gene: PNPLA6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7540242G>A
GRCh37 chr19:g.7605128G>A
gnomAD v2:
19:7605128 G / A
gnomAD v3:
19:7540242 G / A
gnomAD v4:
chr19-7540242-G-A
Joint Max Group AF 0.00034053 (SAS)
Genomes Max Group AF 0.00040833 (SAS)
Exomes Max Group AF 0.00030967 (SAS)
ClinVar RCV:
RCV000316213
RCV003418044
ClinVar Variation:
330516
dbSNP:
566213812
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7540242G>A , CM000681.2:g.7540242G>A GRCh38
NC_000019.9:g.7605128G>A , CM000681.1:g.7605128G>A GRCh37
NC_000019.8:g.7511128G>A NCBI36
NG_013374.1:g.11091G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.648G>A MANE Select ENSP00000473211.1:p.Pro216=
ENST00000221249.10:c.531G>A ENSP00000221249.5:p.Pro177=
ENST00000414982.7:c.675G>A ENSP00000407509.2:p.Pro225=
ENST00000450331.7:c.531G>A ENSP00000394348.2:p.Pro177=
ENST00000545201.6:c.531G>A ENSP00000443323.1:p.Pro177=
ENST00000594551.1:c.115G>A
ENST00000595264.5:c.170G>A
ENST00000598462.1:n.439G>A
ENST00000600737.5:c.648G>A ENSP00000473211.1:p.Pro216=
ENST00000601001.5:c.531G>A ENSP00000472631.1:p.Pro177=
NM_001166111.1:c.675G>A NP_001159583.1:p.Pro225=
NM_001166112.1:c.531G>A NP_001159584.1:p.Pro177=
NM_001166113.1:c.531G>A NP_001159585.1:p.Pro177=
NM_001166114.1:c.648G>A NP_001159586.1:p.Pro216=
NM_006702.4:c.531G>A NP_006693.3:p.Pro177=
NM_001166111.2:c.675G>A NP_001159583.1:p.Pro225=
NM_001166114.2:c.648G>A MANE Select NP_001159586.1:p.Pro216=
NM_006702.5:c.531G>A NP_006693.3:p.Pro177=
NM_001166112.2:c.531G>A NP_001159584.1:p.Pro177=
Search 100 bp 5'
Search 100 bp 3'