Canonical Allele Identifier: CA403138315

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 1333230
• ClinVar RCV Id: RCV001807918
• dbSNP Id: rs2146122850
• MyVariant Identifiers: chr19:g.7625915A>G (hg19) ; chr19:g.7561029A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561029A>G , CM000681.2:g.7561029A>G	GRCh38
NC_000019.9:g.7625915A>G , CM000681.1:g.7625915A>G	GRCh37
NC_000019.8:g.7531915A>G	NCBI36
NG_013374.1:g.31878A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3832A>G MANE Select	ENSP00000473211.1:p.Ser1278Gly
ENST00000221249.10:c.3718A>G	ENSP00000221249.5:p.Ser1240Gly
ENST00000414982.7:c.3862A>G	ENSP00000407509.2:p.Ser1288Gly
ENST00000450331.7:c.3718A>G	ENSP00000394348.2:p.Ser1240Gly
ENST00000545201.6:c.3637A>G	ENSP00000443323.1:p.Ser1213Gly
ENST00000597202.1:n.190A>G
ENST00000599947.1:c.201A>G
ENST00000600737.5:c.3832A>G	ENSP00000473211.1:p.Ser1278Gly
NM_001166111.1:c.3862A>G	NP_001159583.1:p.Ser1288Gly
NM_001166112.1:c.3637A>G	NP_001159584.1:p.Ser1213Gly
NM_001166113.1:c.3718A>G	NP_001159585.1:p.Ser1240Gly
NM_001166114.1:c.3832A>G	NP_001159586.1:p.Ser1278Gly
NM_006702.4:c.3718A>G	NP_006693.3:p.Ser1240Gly
NM_001166111.2:c.3862A>G	NP_001159583.1:p.Ser1288Gly
NM_001166114.2:c.3832A>G MANE Select	NP_001159586.1:p.Ser1278Gly
NM_006702.5:c.3718A>G	NP_006693.3:p.Ser1240Gly
NM_001166112.2:c.3637A>G	NP_001159584.1:p.Ser1213Gly