Canonical Allele Identifier: CA2320976390

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7554999T= , CM000681.2:g.7554999T=	GRCh38
NC_000019.9:g.7619885T= , CM000681.1:g.7619885T=	GRCh37
NC_000019.8:g.7525885T=	NCBI36
NG_013374.1:g.25848T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.2741T= MANE Select	ENSP00000473211.1:p.Met914=
ENST00000221249.10:c.2627T=	ENSP00000221249.5:p.Met876=
ENST00000414982.7:c.2771T=	ENSP00000407509.2:p.Met924=
ENST00000450331.7:c.2627T=	ENSP00000394348.2:p.Met876=
ENST00000545201.6:c.2546T=	ENSP00000443323.1:p.Met849=
ENST00000600737.5:c.2741T=	ENSP00000473211.1:p.Met914=
NM_001166111.1:c.2771T=	NP_001159583.1:p.Met924=
NM_001166112.1:c.2546T=	NP_001159584.1:p.Met849=
NM_001166113.1:c.2627T=	NP_001159585.1:p.Met876=
NM_001166114.1:c.2741T=	NP_001159586.1:p.Met914=
NM_006702.4:c.2627T=	NP_006693.3:p.Met876=
NM_001166111.2:c.2771T=	NP_001159583.1:p.Met924=
NM_001166114.2:c.2741T= MANE Select	NP_001159586.1:p.Met914=
NM_006702.5:c.2627T=	NP_006693.3:p.Met876=
NM_001166112.2:c.2546T=	NP_001159584.1:p.Met849=