Canonical Allele Identifier: CA9639512

Gene: NLRP12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53810522G>A , CM000681.2:g.53810522G>A	GRCh38
NC_000019.9:g.54313776G>A , CM000681.1:g.54313776G>A	GRCh37
NC_000019.8:g.59005588G>A	NCBI36
NG_008651.1:g.18873C>T
NG_008651.2:g.18873C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_144687.4:c.1137C>T MANE Select	NP_653288.1:p.His379=
ENST00000324134.11:c.1137C>T MANE Select	ENSP00000319377.6:p.His379=
NM_001277126.1:c.1137C>T	NP_001264055.1:p.His379=
NM_001277126.2:c.1137C>T	NP_001264055.1:p.His379=
NM_001277129.1:c.1137C>T	NP_001264058.1:p.His379=
NM_144687.3:c.1137C>T	NP_653288.1:p.His379=
ENST00000324134.10:c.1137C>T	ENSP00000319377.6:p.His379=
ENST00000345770.9:c.1137C>T	ENSP00000341428.5:p.His379=
ENST00000391772.1:c.1137C>T	ENSP00000375652.1:p.His379=
ENST00000391773.5:c.1137C>T	ENSP00000375653.1:p.His379=
ENST00000391773.6:c.1137C>T	ENSP00000375653.1:p.His379=
ENST00000391773.7:c.1137C>T	ENSP00000375653.1:p.His379=
ENST00000391775.7:c.1137C>T	ENSP00000375655.3:p.His379=
XM_011527478.1:c.969C>T	XP_011525780.1:p.His323=
XM_011527479.1:c.1137C>T	XP_011525781.1:p.His379=
XM_011527480.1:c.1137C>T	XP_011525782.1:p.His379=
XM_011527481.1:c.1137C>T	XP_011525783.1:p.His379=
XM_011527482.1:c.1137C>T	XP_011525784.1:p.His379=
XM_011527483.1:c.1137C>T	XP_011525785.1:p.His379=
XM_017027460.1:c.1137C>T	XP_016882949.1:p.His379=
XM_017027461.1:c.1137C>T	XP_016882950.1:p.His379=
XM_017027462.1:c.1137C>T	XP_016882951.1:p.His379=
XM_017027463.1:c.720C>T	XP_016882952.1:p.His240=
XM_017027464.1:c.720C>T	XP_016882953.1:p.His240=
XM_017027465.1:c.720C>T	XP_016882954.1:p.His240=
XM_017027466.1:c.720C>T	XP_016882955.1:p.His240=
XM_017027467.1:c.720C>T	XP_016882956.1:p.His240=