Canonical Allele Identifier: CA9140210

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 1138981
• ClinVar RCV Id: RCV001475519
• dbSNP Id: rs372391232
• ExAC: 19:7619862 G / C
• gnomAD v2: 19-7619862-G-C
• gnomAD v3: 19-7554976-G-C
• gnomAD v4: 19-7554976-G-C
• MyVariant Identifiers: chr19:g.7619862G>C (hg19) ; chr19:g.7554976G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7554976G>C , CM000681.2:g.7554976G>C	GRCh38
NC_000019.9:g.7619862G>C , CM000681.1:g.7619862G>C	GRCh37
NC_000019.8:g.7525862G>C	NCBI36
NG_013374.1:g.25825G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.2718G>C MANE Select	ENSP00000473211.1:p.Thr906=
ENST00000221249.10:c.2604G>C	ENSP00000221249.5:p.Thr868=
ENST00000414982.7:c.2748G>C	ENSP00000407509.2:p.Thr916=
ENST00000450331.7:c.2604G>C	ENSP00000394348.2:p.Thr868=
ENST00000545201.6:c.2523G>C	ENSP00000443323.1:p.Thr841=
ENST00000600737.5:c.2718G>C	ENSP00000473211.1:p.Thr906=
NM_001166111.1:c.2748G>C	NP_001159583.1:p.Thr916=
NM_001166112.1:c.2523G>C	NP_001159584.1:p.Thr841=
NM_001166113.1:c.2604G>C	NP_001159585.1:p.Thr868=
NM_001166114.1:c.2718G>C	NP_001159586.1:p.Thr906=
NM_006702.4:c.2604G>C	NP_006693.3:p.Thr868=
NM_001166111.2:c.2748G>C	NP_001159583.1:p.Thr916=
NM_001166114.2:c.2718G>C MANE Select	NP_001159586.1:p.Thr906=
NM_006702.5:c.2604G>C	NP_006693.3:p.Thr868=
NM_001166112.2:c.2523G>C	NP_001159584.1:p.Thr841=