Canonical Allele Identifier: CA407411209
Gene: NLRP12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.53807532C>G , CM000681.2:g.53807532C>G GRCh38
NC_000019.9:g.54310786C>G , CM000681.1:g.54310786C>G GRCh37
NC_000019.8:g.59002598C>G NCBI36
NG_008651.1:g.21863G>C
NG_008651.2:g.21863G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000391773.7:c.2209G>C ENSP00000375653.1:p.Gly737Arg
ENST00000324134.11:c.2206G>C MANE Select ENSP00000319377.6:p.Gly736Arg
ENST00000391773.6:c.2209G>C ENSP00000375653.1:p.Gly737Arg
ENST00000324134.10:c.2206G>C ENSP00000319377.6:p.Gly736Arg
ENST00000345770.9:c.2209G>C ENSP00000341428.5:p.Gly737Arg
ENST00000391772.1:c.2209G>C ENSP00000375652.1:p.Gly737Arg
ENST00000391773.5:c.2209G>C ENSP00000375653.1:p.Gly737Arg
ENST00000391775.7:c.2206G>C ENSP00000375655.3:p.Gly736Arg
ENST00000492915.1:n.1174G>C
NM_001277126.1:c.2209G>C NP_001264055.1:p.Gly737Arg
NM_001277129.1:c.2206G>C NP_001264058.1:p.Gly736Arg
NM_144687.3:c.2206G>C NP_653288.1:p.Gly736Arg
XM_011527478.1:c.2041G>C XP_011525780.1:p.Gly681Arg
XM_011527479.1:c.2209G>C XP_011525781.1:p.Gly737Arg
XM_011527480.1:c.2209G>C XP_011525782.1:p.Gly737Arg
XM_011527481.1:c.2209G>C XP_011525783.1:p.Gly737Arg
XM_011527482.1:c.2209G>C XP_011525784.1:p.Gly737Arg
XM_011527483.1:c.2072+2055G>C XP_011525785.1:n.2072+2055G>C
XM_017027460.1:c.2209G>C XP_016882949.1:p.Gly737Arg
XM_017027461.1:c.2209G>C XP_016882950.1:p.Gly737Arg
XM_017027462.1:c.2072+2055G>C XP_016882951.1:n.2072+2055G>C
XM_017027463.1:c.1792G>C XP_016882952.1:p.Gly598Arg
XM_017027464.1:c.1792G>C XP_016882953.1:p.Gly598Arg
XM_017027465.1:c.1792G>C XP_016882954.1:p.Gly598Arg
XM_017027466.1:c.1792G>C XP_016882955.1:p.Gly598Arg
XM_017027467.1:c.1792G>C XP_016882956.1:p.Gly598Arg
NM_001277126.2:c.2209G>C NP_001264055.1:p.Gly737Arg
NM_144687.4:c.2206G>C MANE Select NP_653288.1:p.Gly736Arg