Canonical Allele Identifier: CA3777716

Gene: PNPLA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36293086C>T , CM000668.2:g.36293086C>T	GRCh38
NC_000006.11:g.36260863C>T , CM000668.1:g.36260863C>T	GRCh37
NC_000006.10:g.36368841C>T	NCBI36
NG_032813.1:g.54919C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001374623.1:c.464C>T MANE Select	NP_001361552.1:p.Pro155Leu
ENST00000636260.2:c.464C>T MANE Select	ENSP00000490785.2:p.Pro155Leu
NM_001145716.2:c.179C>T	NP_001139188.1:p.Pro60Leu
NM_001145717.1:c.464C>T	NP_001139189.2:p.Pro155Leu
NM_173676.2:c.179C>T	NP_775947.2:p.Pro60Leu
ENST00000312917.9:c.179C>T	ENSP00000321116.5:p.Pro60Leu
ENST00000388715.7:c.179C>T	ENSP00000373367.3:p.Pro60Leu
ENST00000394571.3:c.464C>T	ENSP00000378072.2:p.Pro155Leu
ENST00000457797.5:c.467C>T	ENSP00000391868.1:p.Pro156Leu
XM_011514519.1:c.464C>T	XP_011512821.1:p.Pro155Leu
XM_011514519.2:c.464C>T	XP_011512821.1:p.Pro155Leu
XM_011514520.1:c.179C>T	XP_011512822.1:p.Pro60Leu
XM_011514520.2:c.179C>T	XP_011512822.1:p.Pro60Leu
XM_011514521.1:c.179C>T	XP_011512823.1:p.Pro60Leu
XM_011514522.1:c.179C>T	XP_011512824.1:p.Pro60Leu
XM_011514523.1:c.94C>T	XP_011512825.1:p.Arg32Trp
XM_011514524.1:c.70C>T	XP_011512826.1:p.Arg24Trp
XM_011514525.1:c.464C>T	XP_011512827.1:p.Pro155Leu
XM_011514526.1:c.464C>T	XP_011512828.1:p.Pro155Leu
XM_017010776.1:c.464C>T	XP_016866265.1:p.Pro155Leu
XM_017010777.2:c.464C>T	XP_016866266.1:p.Pro155Leu
XM_017010778.1:c.179C>T	XP_016866267.1:p.Pro60Leu
XM_017010779.1:c.-68C>T	XP_016866268.1:n.-68C>T