Canonical Allele Identifier: CA304883014

Gene: PNPLA6

Linked Data

• dbSNP Id: rs78328733
• MyVariant Identifiers: chr19:g.7625928C>G (hg19) ; chr19:g.7561042C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561042C>G , CM000681.2:g.7561042C>G	GRCh38
NC_000019.9:g.7625928C>G , CM000681.1:g.7625928C>G	GRCh37
NC_000019.8:g.7531928C>G	NCBI36
NG_013374.1:g.31891C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3845C>G MANE Select	ENSP00000473211.1:p.Thr1282Ser
ENST00000221249.10:c.3731C>G	ENSP00000221249.5:p.Thr1244Ser
ENST00000414982.7:c.3875C>G	ENSP00000407509.2:p.Thr1292Ser
ENST00000450331.7:c.3731C>G	ENSP00000394348.2:p.Thr1244Ser
ENST00000545201.6:c.3650C>G	ENSP00000443323.1:p.Thr1217Ser
ENST00000597202.1:n.203C>G
ENST00000599947.1:c.214C>G
ENST00000600737.5:c.3845C>G	ENSP00000473211.1:p.Thr1282Ser
NM_001166111.1:c.3875C>G	NP_001159583.1:p.Thr1292Ser
NM_001166112.1:c.3650C>G	NP_001159584.1:p.Thr1217Ser
NM_001166113.1:c.3731C>G	NP_001159585.1:p.Thr1244Ser
NM_001166114.1:c.3845C>G	NP_001159586.1:p.Thr1282Ser
NM_006702.4:c.3731C>G	NP_006693.3:p.Thr1244Ser
NM_001166111.2:c.3875C>G	NP_001159583.1:p.Thr1292Ser
NM_001166114.2:c.3845C>G MANE Select	NP_001159586.1:p.Thr1282Ser
NM_006702.5:c.3731C>G	NP_006693.3:p.Thr1244Ser
NM_001166112.2:c.3650C>G	NP_001159584.1:p.Thr1217Ser