Canonical Allele Identifier: CA2320976363
Gene: PNPLA6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7554953C= , CM000681.2:g.7554953C= GRCh38
NC_000019.9:g.7619839C= , CM000681.1:g.7619839C= GRCh37
NC_000019.8:g.7525839C= NCBI36
NG_013374.1:g.25802C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.2695C= MANE Select ENSP00000473211.1:p.Arg899=
ENST00000221249.10:c.2581C= ENSP00000221249.5:p.Arg861=
ENST00000414982.7:c.2725C= ENSP00000407509.2:p.Arg909=
ENST00000450331.7:c.2581C= ENSP00000394348.2:p.Arg861=
ENST00000545201.6:c.2500C= ENSP00000443323.1:p.Arg834=
ENST00000600737.5:c.2695C= ENSP00000473211.1:p.Arg899=
NM_001166111.1:c.2725C= NP_001159583.1:p.Arg909=
NM_001166112.1:c.2500C= NP_001159584.1:p.Arg834=
NM_001166113.1:c.2581C= NP_001159585.1:p.Arg861=
NM_001166114.1:c.2695C= NP_001159586.1:p.Arg899=
NM_006702.4:c.2581C= NP_006693.3:p.Arg861=
NM_001166111.2:c.2725C= NP_001159583.1:p.Arg909=
NM_001166114.2:c.2695C= MANE Select NP_001159586.1:p.Arg899=
NM_006702.5:c.2581C= NP_006693.3:p.Arg861=
NM_001166112.2:c.2500C= NP_001159584.1:p.Arg834=