Canonical Allele Identifier: CA363813785

Gene: PNPLA1

Linked Data

• ClinVar Variation Id: 451071
• ClinVar RCV Id: RCV000521104 ; RCV000782288 ; RCV000845147
• dbSNP Id: rs1554138062
• MyVariant Identifiers: chr6:g.36262108T>C (hg19) ; chr6:g.36294331T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36294331T>C , CM000668.2:g.36294331T>C	GRCh38
NC_000006.11:g.36262108T>C , CM000668.1:g.36262108T>C	GRCh37
NC_000006.10:g.36370086T>C	NCBI36
NG_032813.1:g.56164T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636260.2:c.646T>C MANE Select	ENSP00000490785.2:p.Cys216Arg
ENST00000312917.9:c.388T>C	ENSP00000321116.5:p.Cys130Arg
ENST00000388715.7:c.361T>C	ENSP00000373367.3:p.Cys121Arg
ENST00000394571.3:c.646T>C	ENSP00000378072.2:p.Cys216Arg
ENST00000457797.5:c.649T>C	ENSP00000391868.1:p.Cys217Arg
NM_001145716.2:c.388T>C	NP_001139188.1:p.Cys130Arg
NM_001145717.1:c.646T>C	NP_001139189.2:p.Cys216Arg
NM_173676.2:c.361T>C	NP_775947.2:p.Cys121Arg
XM_011514519.1:c.646T>C	XP_011512821.1:p.Cys216Arg
XM_011514520.1:c.361T>C	XP_011512822.1:p.Cys121Arg
XM_011514521.1:c.361T>C	XP_011512823.1:p.Cys121Arg
XM_011514522.1:c.361T>C	XP_011512824.1:p.Cys121Arg
XM_011514523.1:c.199T>C	XP_011512825.1:p.Cys67Arg
XM_011514524.1:c.175T>C	XP_011512826.1:p.Cys59Arg
XM_011514525.1:c.646T>C	XP_011512827.1:p.Cys216Arg
XM_011514526.1:c.569T>C	XP_011512828.1:p.Leu190Pro
XM_011514519.2:c.646T>C	XP_011512821.1:p.Cys216Arg
XM_011514520.2:c.361T>C	XP_011512822.1:p.Cys121Arg
XM_017010776.1:c.673T>C	XP_016866265.1:p.Cys225Arg
XM_017010777.2:c.673T>C	XP_016866266.1:p.Cys225Arg
XM_017010778.1:c.388T>C	XP_016866267.1:p.Cys130Arg
XM_017010779.1:c.115T>C	XP_016866268.1:p.Cys39Arg
NM_001374623.1:c.646T>C MANE Select	NP_001361552.1:p.Cys216Arg