Canonical Allele Identifier: CA9140566

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 1062578
• ClinVar RCV Id: RCV001372313 ; RCV003169914
• dbSNP Id: rs760045636
• ExAC: 19:7625562 T / C
• gnomAD v2: 19-7625562-T-C
• gnomAD v3: 19-7560676-T-C
• gnomAD v4: 19-7560676-T-C
• MyVariant Identifiers: chr19:g.7625562T>C (hg19) ; chr19:g.7560676T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560676T>C , CM000681.2:g.7560676T>C	GRCh38
NC_000019.9:g.7625562T>C , CM000681.1:g.7625562T>C	GRCh37
NC_000019.8:g.7531562T>C	NCBI36
NG_013374.1:g.31525T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3728T>C MANE Select	ENSP00000473211.1:p.Val1243Ala
ENST00000221249.10:c.3614T>C	ENSP00000221249.5:p.Val1205Ala
ENST00000414982.7:c.3758T>C	ENSP00000407509.2:p.Val1253Ala
ENST00000450331.7:c.3614T>C	ENSP00000394348.2:p.Val1205Ala
ENST00000545201.6:c.3533T>C	ENSP00000443323.1:p.Val1178Ala
ENST00000597202.1:n.86T>C
ENST00000599947.1:c.186-338T>C
ENST00000600737.5:c.3728T>C	ENSP00000473211.1:p.Val1243Ala
NM_001166111.1:c.3758T>C	NP_001159583.1:p.Val1253Ala
NM_001166112.1:c.3533T>C	NP_001159584.1:p.Val1178Ala
NM_001166113.1:c.3614T>C	NP_001159585.1:p.Val1205Ala
NM_001166114.1:c.3728T>C	NP_001159586.1:p.Val1243Ala
NM_006702.4:c.3614T>C	NP_006693.3:p.Val1205Ala
NM_001166111.2:c.3758T>C	NP_001159583.1:p.Val1253Ala
NM_001166114.2:c.3728T>C MANE Select	NP_001159586.1:p.Val1243Ala
NM_006702.5:c.3614T>C	NP_006693.3:p.Val1205Ala
NM_001166112.2:c.3533T>C	NP_001159584.1:p.Val1178Ala