Canonical Allele Identifier: CA304883023

Gene: PNPLA6

Linked Data

• dbSNP Id: rs894257083
• MyVariant Identifiers: chr19:g.7625963C>T (hg19) ; chr19:g.7561077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561077C>T , CM000681.2:g.7561077C>T	GRCh38
NC_000019.9:g.7625963C>T , CM000681.1:g.7625963C>T	GRCh37
NC_000019.8:g.7531963C>T	NCBI36
NG_013374.1:g.31926C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3880C>T MANE Select	ENSP00000473211.1:p.Pro1294Ser
ENST00000221249.10:c.3766C>T	ENSP00000221249.5:p.Pro1256Ser
ENST00000414982.7:c.3910C>T	ENSP00000407509.2:p.Pro1304Ser
ENST00000450331.7:c.3766C>T	ENSP00000394348.2:p.Pro1256Ser
ENST00000545201.6:c.3685C>T	ENSP00000443323.1:p.Pro1229Ser
ENST00000597202.1:n.238C>T
ENST00000599947.1:c.249C>T
ENST00000600737.5:c.3880C>T	ENSP00000473211.1:p.Pro1294Ser
NM_001166111.1:c.3910C>T	NP_001159583.1:p.Pro1304Ser
NM_001166112.1:c.3685C>T	NP_001159584.1:p.Pro1229Ser
NM_001166113.1:c.3766C>T	NP_001159585.1:p.Pro1256Ser
NM_001166114.1:c.3880C>T	NP_001159586.1:p.Pro1294Ser
NM_006702.4:c.3766C>T	NP_006693.3:p.Pro1256Ser
NM_001166111.2:c.3910C>T	NP_001159583.1:p.Pro1304Ser
NM_001166114.2:c.3880C>T MANE Select	NP_001159586.1:p.Pro1294Ser
NM_006702.5:c.3766C>T	NP_006693.3:p.Pro1256Ser
NM_001166112.2:c.3685C>T	NP_001159584.1:p.Pro1229Ser