Canonical Allele Identifier: CA378976335

Gene: PNPLA2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.819750C>T , CM000673.2:g.819750C>T	GRCh38
NC_000011.9:g.819750C>T , CM000673.1:g.819750C>T	GRCh37
NC_000011.8:g.809750C>T	NCBI36
NG_023394.1:g.5850C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020376.4:c.32C>T MANE Select	NP_065109.1:p.Ser11Leu
ENST00000336615.9:c.32C>T MANE Select	ENSP00000337701.4:p.Ser11Leu
NM_020376.3:c.32C>T	NP_065109.1:p.Ser11Leu
ENST00000336615.8:c.32C>T	ENSP00000337701.4:p.Ser11Leu
XM_006718265.2:c.32C>T	XP_006718328.1:p.Ser11Leu
XM_006718265.3:c.32C>T	XP_006718328.1:p.Ser11Leu
XM_006718266.2:c.32C>T	XP_006718329.1:p.Ser11Leu
XM_006718266.3:c.32C>T	XP_006718329.1:p.Ser11Leu
XM_017018028.1:c.32C>T	XP_016873517.1:p.Ser11Leu
XM_024448618.1:c.32C>T	XP_024304386.1:p.Ser11Leu