Canonical Allele Identifier: CA9140630

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 1566328
• ClinVar RCV Id: RCV002220332
• dbSNP Id: rs11307097
• ExAC: 19:7626013 A / AC
• gnomAD v2: 19-7626013-A-AC
• gnomAD v3: 19-7561127-A-AC
• gnomAD v4: 19-7561127-A-AC
• MyVariant Identifiers: chr19:g.7626014_7626015insC (hg19) ; chr19:g.7626013_7626014insC (hg19) ; chr19:g.7561128_7561129insC (hg38) ; chr19:g.7561127_7561128insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561133dup , CM000681.2:g.7561133dup	GRCh38
NC_000019.9:g.7626019dup , CM000681.1:g.7626019dup	GRCh37
NC_000019.8:g.7532019dup	NCBI36
NG_013374.1:g.31982dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3913+23dup MANE Select	ENSP00000473211.1:n.3913+23dup
ENST00000221249.10:c.3799+23dup	ENSP00000221249.5:n.3799+23dup
ENST00000414982.7:c.3943+23dup	ENSP00000407509.2:n.3943+23dup
ENST00000450331.7:c.3799+23dup	ENSP00000394348.2:n.3799+23dup
ENST00000545201.6:c.3718+23dup	ENSP00000443323.1:n.3718+23dup
ENST00000597202.1:n.271+23dup
ENST00000599947.1:c.282+23dup
ENST00000600737.5:c.3913+23dup	ENSP00000473211.1:n.3913+23dup
NM_001166111.1:c.3943+23dup	NP_001159583.1:n.3943+23dup
NM_001166112.1:c.3718+23dup	NP_001159584.1:n.3718+23dup
NM_001166113.1:c.3799+23dup	NP_001159585.1:n.3799+23dup
NM_001166114.1:c.3913+23dup	NP_001159586.1:n.3913+23dup
NM_006702.4:c.3799+23dup	NP_006693.3:n.3799+23dup
NM_001166111.2:c.3943+23dup	NP_001159583.1:n.3943+23dup
NM_001166114.2:c.3913+23dup MANE Select	NP_001159586.1:n.3913+23dup
NM_006702.5:c.3799+23dup	NP_006693.3:n.3799+23dup
NM_001166112.2:c.3718+23dup	NP_001159584.1:n.3718+23dup