Canonical Allele Identifier: CA9140638

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 1293117
• ClinVar RCV Id: RCV001717357
• dbSNP Id: rs62111319
• ExAC: 19:7626071 T / C
• gnomAD v2: 19-7626071-T-C
• gnomAD v3: 19-7561185-T-C
• gnomAD v4: 19-7561185-T-C
• MyVariant Identifiers: chr19:g.7626071T>C (hg19) ; chr19:g.7561185T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561185T>C , CM000681.2:g.7561185T>C	GRCh38
NC_000019.9:g.7626071T>C , CM000681.1:g.7626071T>C	GRCh37
NC_000019.8:g.7532071T>C	NCBI36
NG_013374.1:g.32034T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3914-23T>C MANE Select	ENSP00000473211.1:n.3914-23T>C
ENST00000221249.10:c.3800-23T>C	ENSP00000221249.5:n.3800-23T>C
ENST00000414982.7:c.3944-23T>C	ENSP00000407509.2:n.3944-23T>C
ENST00000450331.7:c.3800-23T>C	ENSP00000394348.2:n.3800-23T>C
ENST00000545201.6:c.3719-23T>C	ENSP00000443323.1:n.3719-23T>C
ENST00000597202.1:n.272-23T>C
ENST00000599947.1:c.283-23T>C
ENST00000600737.5:c.3914-23T>C	ENSP00000473211.1:n.3914-23T>C
NM_001166111.1:c.3944-23T>C	NP_001159583.1:n.3944-23T>C
NM_001166112.1:c.3719-23T>C	NP_001159584.1:n.3719-23T>C
NM_001166113.1:c.3800-23T>C	NP_001159585.1:n.3800-23T>C
NM_001166114.1:c.3914-23T>C	NP_001159586.1:n.3914-23T>C
NM_006702.4:c.3800-23T>C	NP_006693.3:n.3800-23T>C
NM_001166111.2:c.3944-23T>C	NP_001159583.1:n.3944-23T>C
NM_001166114.2:c.3914-23T>C MANE Select	NP_001159586.1:n.3914-23T>C
NM_006702.5:c.3800-23T>C	NP_006693.3:n.3800-23T>C
NM_001166112.2:c.3719-23T>C	NP_001159584.1:n.3719-23T>C