Canonical Allele Identifier: CA9638908

Gene: NLRP12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53798409C>G , CM000681.2:g.53798409C>G	GRCh38
NC_000019.9:g.54301663C>G , CM000681.1:g.54301663C>G	GRCh37
NC_000019.8:g.58993475C>G	NCBI36
NG_008651.1:g.30986G>C
NG_008651.2:g.30986G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_144687.4:c.2761G>C MANE Select	NP_653288.1:p.Gly921Arg
ENST00000324134.11:c.2761G>C MANE Select	ENSP00000319377.6:p.Gly921Arg
NM_001277126.1:c.2764G>C	NP_001264055.1:p.Gly922Arg
NM_001277126.2:c.2764G>C	NP_001264055.1:p.Gly922Arg
NM_001277129.1:c.2757-2380G>C	NP_001264058.1:n.2757-2380G>C
NM_144687.3:c.2761G>C	NP_653288.1:p.Gly921Arg
ENST00000324134.10:c.2761G>C	ENSP00000319377.6:p.Gly921Arg
ENST00000345770.9:c.2764G>C	ENSP00000341428.5:p.Gly922Arg
ENST00000391772.1:c.2592-4273G>C	ENSP00000375652.1:n.2592-4273G>C
ENST00000391773.5:c.2764G>C	ENSP00000375653.1:p.Gly922Arg
ENST00000391773.6:c.2764G>C	ENSP00000375653.1:p.Gly922Arg
ENST00000391773.7:c.2764G>C	ENSP00000375653.1:p.Gly922Arg
ENST00000391775.7:c.2757-2380G>C	ENSP00000375655.3:n.2757-2380G>C
ENST00000492915.1:n.1915-2380G>C
XM_011527478.1:c.2596G>C	XP_011525780.1:p.Gly866Arg
XM_011527479.1:c.2593G>C	XP_011525781.1:p.Gly865Arg
XM_011527480.1:c.2760-2380G>C	XP_011525782.1:n.2760-2380G>C
XM_011527481.1:c.2882G>C	XP_011525783.1:p.Gly961Ala
XM_011527482.1:c.2589-2380G>C	XP_011525784.1:n.2589-2380G>C
XM_011527483.1:c.2248G>C	XP_011525785.1:p.Gly750Arg
XM_017027460.1:c.2764G>C	XP_016882949.1:p.Gly922Arg
XM_017027461.1:c.2764G>C	XP_016882950.1:p.Gly922Arg
XM_017027462.1:c.2590G>C	XP_016882951.1:p.Gly864Arg
XM_017027463.1:c.2347G>C	XP_016882952.1:p.Gly783Arg
XM_017027464.1:c.2347G>C	XP_016882953.1:p.Gly783Arg
XM_017027465.1:c.2347G>C	XP_016882954.1:p.Gly783Arg
XM_017027466.1:c.2347G>C	XP_016882955.1:p.Gly783Arg
XM_017027467.1:c.2347G>C	XP_016882956.1:p.Gly783Arg