Canonical Allele Identifier: CA505404302

Gene: PNPLA6

Linked Data

• ClinVar Variation Id: 2015028
• ClinVar RCV Id: RCV002846156
• MyVariant Identifiers: chr19:g.7625911C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561025C>T , CM000681.2:g.7561025C>T	GRCh38
NC_000019.9:g.7625911C>T , CM000681.1:g.7625911C>T	GRCh37
NC_000019.8:g.7531911C>T	NCBI36
NG_013374.1:g.31874C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3828C>T MANE Select	ENSP00000473211.1:p.Phe1276=
ENST00000221249.10:c.3714C>T	ENSP00000221249.5:p.Phe1238=
ENST00000414982.7:c.3858C>T	ENSP00000407509.2:p.Phe1286=
ENST00000450331.7:c.3714C>T	ENSP00000394348.2:p.Phe1238=
ENST00000545201.6:c.3633C>T	ENSP00000443323.1:p.Phe1211=
ENST00000597202.1:n.186C>T
ENST00000599947.1:c.197C>T
ENST00000600737.5:c.3828C>T	ENSP00000473211.1:p.Phe1276=
NM_001166111.1:c.3858C>T	NP_001159583.1:p.Phe1286=
NM_001166112.1:c.3633C>T	NP_001159584.1:p.Phe1211=
NM_001166113.1:c.3714C>T	NP_001159585.1:p.Phe1238=
NM_001166114.1:c.3828C>T	NP_001159586.1:p.Phe1276=
NM_006702.4:c.3714C>T	NP_006693.3:p.Phe1238=
NM_001166111.2:c.3858C>T	NP_001159583.1:p.Phe1286=
NM_001166114.2:c.3828C>T MANE Select	NP_001159586.1:p.Phe1276=
NM_006702.5:c.3714C>T	NP_006693.3:p.Phe1238=
NM_001166112.2:c.3633C>T	NP_001159584.1:p.Phe1211=