Canonical Allele Identifier: CA5791399

Gene: PNPLA2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.824753C>T , CM000673.2:g.824753C>T	GRCh38
NC_000011.9:g.824753C>T , CM000673.1:g.824753C>T	GRCh37
NC_000011.8:g.814753C>T	NCBI36
NG_023394.1:g.10853C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020376.4:c.1406C>T MANE Select	NP_065109.1:p.Pro469Leu
ENST00000336615.9:c.1406C>T MANE Select	ENSP00000337701.4:p.Pro469Leu
NM_020376.3:c.1406C>T	NP_065109.1:p.Pro469Leu
ENST00000336615.8:c.1406C>T	ENSP00000337701.4:p.Pro469Leu
ENST00000525250.5:n.2260C>T
ENST00000529255.1:n.836C>T
ENST00000617551.1:c.404C>T	ENSP00000481602.1:p.Pro135Leu
XM_006718265.2:c.1548C>T	XP_006718328.1:p.Ser516=
XM_006718265.3:c.1548C>T	XP_006718328.1:p.Ser516=
XM_006718266.2:c.1548C>T	XP_006718329.1:p.Ser516=
XM_006718266.3:c.1548C>T	XP_006718329.1:p.Ser516=
XM_017018028.1:c.1406C>T	XP_016873517.1:p.Pro469Leu
XM_024448618.1:c.1634C>T	XP_024304386.1:p.Pro545Leu