Canonical Allele Identifier: CA403138466

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7561051-C-T
• COSMIC: COSM2729051 ; COSM2729052
• MyVariant Identifiers: chr19:g.7625937C>T (hg19) ; chr19:g.7561051C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561051C>T , CM000681.2:g.7561051C>T	GRCh38
NC_000019.9:g.7625937C>T , CM000681.1:g.7625937C>T	GRCh37
NC_000019.8:g.7531937C>T	NCBI36
NG_013374.1:g.31900C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000600737.6:c.3854C>T MANE Select	ENSP00000473211.1:p.Ala1285Val
ENST00000221249.10:c.3740C>T	ENSP00000221249.5:p.Ala1247Val
ENST00000414982.7:c.3884C>T	ENSP00000407509.2:p.Ala1295Val
ENST00000450331.7:c.3740C>T	ENSP00000394348.2:p.Ala1247Val
ENST00000545201.6:c.3659C>T	ENSP00000443323.1:p.Ala1220Val
ENST00000597202.1:n.212C>T
ENST00000599947.1:c.223C>T
ENST00000600737.5:c.3854C>T	ENSP00000473211.1:p.Ala1285Val
NM_001166111.1:c.3884C>T	NP_001159583.1:p.Ala1295Val
NM_001166112.1:c.3659C>T	NP_001159584.1:p.Ala1220Val
NM_001166113.1:c.3740C>T	NP_001159585.1:p.Ala1247Val
NM_001166114.1:c.3854C>T	NP_001159586.1:p.Ala1285Val
NM_006702.4:c.3740C>T	NP_006693.3:p.Ala1247Val
NM_001166111.2:c.3884C>T	NP_001159583.1:p.Ala1295Val
NM_001166114.2:c.3854C>T MANE Select	NP_001159586.1:p.Ala1285Val
NM_006702.5:c.3740C>T	NP_006693.3:p.Ala1247Val
NM_001166112.2:c.3659C>T	NP_001159584.1:p.Ala1220Val