Canonical Allele Identifier: CA9638897
Gene: NLRP12 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.53798378T>C , CM000681.2:g.53798378T>C GRCh38
NC_000019.9:g.54301632T>C , CM000681.1:g.54301632T>C GRCh37
NC_000019.8:g.58993444T>C NCBI36
NG_008651.1:g.31017A>G
NG_008651.2:g.31017A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000391773.7:c.2795A>G ENSP00000375653.1:p.Glu932Gly
ENST00000324134.11:c.2792A>G MANE Select ENSP00000319377.6:p.Glu931Gly
ENST00000391773.6:c.2795A>G ENSP00000375653.1:p.Glu932Gly
ENST00000324134.10:c.2792A>G ENSP00000319377.6:p.Glu931Gly
ENST00000345770.9:c.2795A>G ENSP00000341428.5:p.Glu932Gly
ENST00000391772.1:c.2592-4242A>G ENSP00000375652.1:n.2592-4242A>G
ENST00000391773.5:c.2795A>G ENSP00000375653.1:p.Glu932Gly
ENST00000391775.7:c.2757-2349A>G ENSP00000375655.3:n.2757-2349A>G
ENST00000492915.1:n.1915-2349A>G
NM_001277126.1:c.2795A>G NP_001264055.1:p.Glu932Gly
NM_001277129.1:c.2757-2349A>G NP_001264058.1:n.2757-2349A>G
NM_144687.3:c.2792A>G NP_653288.1:p.Glu931Gly
XM_011527478.1:c.2627A>G XP_011525780.1:p.Glu876Gly
XM_011527479.1:c.2624A>G XP_011525781.1:p.Glu875Gly
XM_011527480.1:c.2760-2349A>G XP_011525782.1:n.2760-2349A>G
XM_011527481.1:c.2913A>G XP_011525783.1:p.Ter971Trp
XM_011527482.1:c.2589-2349A>G XP_011525784.1:n.2589-2349A>G
XM_011527483.1:c.2279A>G XP_011525785.1:p.Glu760Gly
XM_017027460.1:c.2795A>G XP_016882949.1:p.Glu932Gly
XM_017027461.1:c.2795A>G XP_016882950.1:p.Glu932Gly
XM_017027462.1:c.2621A>G XP_016882951.1:p.Glu874Gly
XM_017027463.1:c.2378A>G XP_016882952.1:p.Glu793Gly
XM_017027464.1:c.2378A>G XP_016882953.1:p.Glu793Gly
XM_017027465.1:c.2378A>G XP_016882954.1:p.Glu793Gly
XM_017027466.1:c.2378A>G XP_016882955.1:p.Glu793Gly
XM_017027467.1:c.2378A>G XP_016882956.1:p.Glu793Gly
NM_001277126.2:c.2795A>G NP_001264055.1:p.Glu932Gly
NM_144687.4:c.2792A>G MANE Select NP_653288.1:p.Glu931Gly