Canonical Allele Identifier: CA403137327

Gene: PNPLA6

Linked Data

• MyVariant Identifiers: chr19:g.7625538T>G (hg19) ; chr19:g.7560652T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560652T>G , CM000681.2:g.7560652T>G	GRCh38
NC_000019.9:g.7625538T>G , CM000681.1:g.7625538T>G	GRCh37
NC_000019.8:g.7531538T>G	NCBI36
NG_013374.1:g.31501T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3704T>G MANE Select	ENSP00000473211.1:p.Val1235Gly
ENST00000221249.10:c.3590T>G	ENSP00000221249.5:p.Val1197Gly
ENST00000414982.7:c.3734T>G	ENSP00000407509.2:p.Val1245Gly
ENST00000450331.7:c.3590T>G	ENSP00000394348.2:p.Val1197Gly
ENST00000545201.6:c.3509T>G	ENSP00000443323.1:p.Val1170Gly
ENST00000597202.1:n.62T>G
ENST00000599947.1:c.186-362T>G
ENST00000600737.5:c.3704T>G	ENSP00000473211.1:p.Val1235Gly
NM_001166111.1:c.3734T>G	NP_001159583.1:p.Val1245Gly
NM_001166112.1:c.3509T>G	NP_001159584.1:p.Val1170Gly
NM_001166113.1:c.3590T>G	NP_001159585.1:p.Val1197Gly
NM_001166114.1:c.3704T>G	NP_001159586.1:p.Val1235Gly
NM_006702.4:c.3590T>G	NP_006693.3:p.Val1197Gly
NM_001166111.2:c.3734T>G	NP_001159583.1:p.Val1245Gly
NM_001166114.2:c.3704T>G MANE Select	NP_001159586.1:p.Val1235Gly
NM_006702.5:c.3590T>G	NP_006693.3:p.Val1197Gly
NM_001166112.2:c.3509T>G	NP_001159584.1:p.Val1170Gly