Canonical Allele Identifier: CA9140595
Gene: PNPLA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1231563
ClinVar RCV Id: RCV001610219
dbSNP Id: rs35902090
ExAC: 19:7625864 G / GC
gnomAD v2: 19-7625864-G-GC
gnomAD v3: 19-7560978-G-GC
gnomAD v4: 19-7560978-G-GC
COSMIC: COSN1219786 COSN17154315
MyVariant Identifiers: chr19:g.7625871_7625872insC (hg19) chr19:g.7625865_7625866insC (hg19) chr19:g.7625864_7625865insC (hg19) chr19:g.7560985_7560986insC (hg38) chr19:g.7560979_7560980insC (hg38) chr19:g.7560978_7560979insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7560985dup , CM000681.2:g.7560985dup GRCh38
NC_000019.9:g.7625871dup , CM000681.1:g.7625871dup GRCh37
NC_000019.8:g.7531871dup NCBI36
NG_013374.1:g.31834dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.3817-29dup MANE Select ENSP00000473211.1:n.3817-29dup
ENST00000221249.10:c.3703-29dup ENSP00000221249.5:n.3703-29dup
ENST00000414982.7:c.3847-29dup ENSP00000407509.2:n.3847-29dup
ENST00000450331.7:c.3703-29dup ENSP00000394348.2:n.3703-29dup
ENST00000545201.6:c.3622-29dup ENSP00000443323.1:n.3622-29dup
ENST00000597202.1:n.175-29dup
ENST00000599947.1:c.186-29dup
ENST00000600737.5:c.3817-29dup ENSP00000473211.1:n.3817-29dup
NM_001166111.1:c.3847-29dup NP_001159583.1:n.3847-29dup
NM_001166112.1:c.3622-29dup NP_001159584.1:n.3622-29dup
NM_001166113.1:c.3703-29dup NP_001159585.1:n.3703-29dup
NM_001166114.1:c.3817-29dup NP_001159586.1:n.3817-29dup
NM_006702.4:c.3703-29dup NP_006693.3:n.3703-29dup
NM_001166111.2:c.3847-29dup NP_001159583.1:n.3847-29dup
NM_001166114.2:c.3817-29dup MANE Select NP_001159586.1:n.3817-29dup
NM_006702.5:c.3703-29dup NP_006693.3:n.3703-29dup
NM_001166112.2:c.3622-29dup NP_001159584.1:n.3622-29dup
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