Canonical Allele Identifier: CA368893855

Gene: PNPLA8

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.108487763T>C , CM000669.2:g.108487763T>C	GRCh38
NC_000007.13:g.108128207T>C , CM000669.1:g.108128207T>C	GRCh37
NC_000007.12:g.107915443T>C	NCBI36
NG_042172.1:g.45399A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001256007.3:c.1874A>G MANE Select	NP_001242936.1:p.His625Arg
ENST00000257694.13:c.1874A>G MANE Select	ENSP00000257694.8:p.His625Arg
NM_001256007.1:c.1874A>G	NP_001242936.1:p.His625Arg
NM_001256007.2:c.1874A>G	NP_001242936.1:p.His625Arg
NM_001256008.1:c.1874A>G	NP_001242937.1:p.His625Arg
NM_001256008.2:c.1874A>G	NP_001242937.1:p.His625Arg
NM_001256008.3:c.1874A>G	NP_001242937.1:p.His625Arg
NM_001256009.1:c.1692+182A>G	NP_001242938.1:n.1692+182A>G
NM_001256009.2:c.1692+182A>G	NP_001242938.1:n.1692+182A>G
NM_001256009.3:c.1692+182A>G	NP_001242938.1:n.1692+182A>G
NM_001256010.1:c.1574A>G	NP_001242939.1:p.His525Arg
NM_001256010.2:c.1574A>G	NP_001242939.1:p.His525Arg
NM_001256010.3:c.1574A>G	NP_001242939.1:p.His525Arg
NM_001256011.1:c.1574A>G	NP_001242940.1:p.His525Arg
NM_001256011.2:c.1574A>G	NP_001242940.1:p.His525Arg
NM_001256011.3:c.1574A>G	NP_001242940.1:p.His525Arg
NM_015723.3:c.1874A>G	NP_056538.1:p.His625Arg
NM_015723.4:c.1874A>G	NP_056538.1:p.His625Arg
NM_015723.5:c.1874A>G	NP_056538.1:p.His625Arg
ENST00000257694.12:c.1874A>G	ENSP00000257694.8:p.His625Arg
ENST00000422087.5:c.1874A>G	ENSP00000410804.1:p.His625Arg
ENST00000426128.6:c.1692+182A>G	ENSP00000394988.2:n.1692+182A>G
ENST00000436062.5:c.1874A>G	ENSP00000406779.1:p.His625Arg
ENST00000453085.1:c.1574A>G	ENSP00000402274.1:p.His525Arg
ENST00000453144.5:c.1574A>G	ENSP00000387789.1:p.His525Arg
XM_005250396.3:c.1692+182A>G	XP_005250453.1:n.1692+182A>G
XM_005250396.5:c.1692+182A>G	XP_005250453.1:n.1692+182A>G
XM_011516274.1:c.1958A>G	XP_011514576.1:p.His653Arg
XM_011516274.3:c.1958A>G	XP_011514576.1:p.His653Arg
XM_011516275.1:c.1776+182A>G	XP_011514577.1:n.1776+182A>G
XM_011516275.3:c.1776+182A>G	XP_011514577.1:n.1776+182A>G
XM_017012261.2:c.1392+182A>G	XP_016867750.1:n.1392+182A>G
XR_001744793.2:n.2721A>G
XR_001744795.2:n.2539+182A>G
XR_001744796.2:n.2848A>G
XR_001744797.2:n.2802A>G
XR_001744798.2:n.2620+182A>G
XR_927471.1:n.2744A>G
XR_927472.1:n.2744A>G
XR_927473.1:n.2562+182A>G