Canonical Allele Identifier: CA9638793
Gene: NLRP12 HGNC NCBI
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.53795911G>A , CM000681.2:g.53795911G>A GRCh38
NC_000019.9:g.54299165G>A , CM000681.1:g.54299165G>A GRCh37
NC_000019.8:g.58990977G>A NCBI36
NG_008651.1:g.33484C>T
NG_008651.2:g.33484C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000391773.7:c.3049C>T ENSP00000375653.1:p.Arg1017Ter
ENST00000324134.11:c.3046C>T MANE Select ENSP00000319377.6:p.Arg1016Ter
ENST00000391773.6:c.3049C>T ENSP00000375653.1:p.Arg1017Ter
ENST00000324134.10:c.3046C>T ENSP00000319377.6:p.Arg1016Ter
ENST00000345770.9:c.2934-1775C>T ENSP00000341428.5:n.2934-1775C>T
ENST00000391772.1:c.2592-1775C>T ENSP00000375652.1:n.2592-1775C>T
ENST00000391773.5:c.3049C>T ENSP00000375653.1:p.Arg1017Ter
ENST00000391775.7:c.2875C>T ENSP00000375655.3:p.Arg959Ter
ENST00000492915.1:n.2033C>T
NM_001277126.1:c.3049C>T NP_001264055.1:p.Arg1017Ter
NM_001277129.1:c.2875C>T NP_001264058.1:p.Arg959Ter
NM_144687.3:c.3046C>T NP_653288.1:p.Arg1016Ter
XM_011527478.1:c.2881C>T XP_011525780.1:p.Arg961Ter
XM_011527479.1:c.2878C>T XP_011525781.1:p.Arg960Ter
XM_011527480.1:c.2878C>T XP_011525782.1:p.Arg960Ter
XM_011527482.1:c.2707C>T XP_011525784.1:p.Arg903Ter
XM_011527483.1:c.2533C>T XP_011525785.1:p.Arg845Ter
XM_017027460.1:c.3046C>T XP_016882949.1:p.Arg1016Ter
XM_017027461.1:c.2931-1775C>T XP_016882950.1:n.2931-1775C>T
XM_017027462.1:c.2875C>T XP_016882951.1:p.Arg959Ter
XM_017027463.1:c.2632C>T XP_016882952.1:p.Arg878Ter
XM_017027464.1:c.2632C>T XP_016882953.1:p.Arg878Ter
XM_017027465.1:c.2632C>T XP_016882954.1:p.Arg878Ter
XM_017027466.1:c.2632C>T XP_016882955.1:p.Arg878Ter
XM_017027467.1:c.2632C>T XP_016882956.1:p.Arg878Ter
NM_001277126.2:c.3049C>T NP_001264055.1:p.Arg1017Ter
NM_144687.4:c.3046C>T MANE Select NP_653288.1:p.Arg1016Ter