Canonical Allele Identifier: CA3777835

Gene: PNPLA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36295385C>T , CM000668.2:g.36295385C>T	GRCh38
NC_000006.11:g.36263162C>T , CM000668.1:g.36263162C>T	GRCh37
NC_000006.10:g.36371140C>T	NCBI36
NG_032813.1:g.57218C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001374623.1:c.736C>T MANE Select	NP_001361552.1:p.Arg246Ter
ENST00000636260.2:c.736C>T MANE Select	ENSP00000490785.2:p.Arg246Ter
NM_001145716.2:c.478C>T	NP_001139188.1:p.Arg160Ter
NM_001145717.1:c.736C>T	NP_001139189.2:p.Arg246Ter
NM_173676.2:c.451C>T	NP_775947.2:p.Arg151Ter
ENST00000312917.9:c.478C>T	ENSP00000321116.5:p.Arg160Ter
ENST00000388715.7:c.451C>T	ENSP00000373367.3:p.Arg151Ter
ENST00000394571.3:c.736C>T	ENSP00000378072.2:p.Arg246Ter
ENST00000457797.5:c.739C>T	ENSP00000391868.1:p.Arg247Ter
XM_011514519.1:c.736C>T	XP_011512821.1:p.Arg246Ter
XM_011514519.2:c.736C>T	XP_011512821.1:p.Arg246Ter
XM_011514520.1:c.451C>T	XP_011512822.1:p.Arg151Ter
XM_011514520.2:c.451C>T	XP_011512822.1:p.Arg151Ter
XM_011514521.1:c.451C>T	XP_011512823.1:p.Arg151Ter
XM_011514522.1:c.451C>T	XP_011512824.1:p.Arg151Ter
XM_011514523.1:c.289C>T	XP_011512825.1:p.Arg97Ter
XM_011514524.1:c.265C>T	XP_011512826.1:p.Arg89Ter
XM_011514525.1:c.736C>T	XP_011512827.1:p.Arg246Ter
XM_011514526.1:c.659C>T	XP_011512828.1:p.Pro220Leu
XM_017010776.1:c.763C>T	XP_016866265.1:p.Arg255Ter
XM_017010777.2:c.763C>T	XP_016866266.1:p.Arg255Ter
XM_017010778.1:c.478C>T	XP_016866267.1:p.Arg160Ter
XM_017010779.1:c.205C>T	XP_016866268.1:p.Arg69Ter