Canonical Allele Identifier: CA508854234

Gene: NLRP12

Linked Data

• dbSNP Id: rs2092058660
• gnomAD v3: 19-53810807-T-G
• gnomAD v4: 19-53810807-T-G
• MyVariant Identifiers: chr19:g.54314061T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53810807T>G , CM000681.2:g.53810807T>G	GRCh38
NC_000019.9:g.54314061T>G , CM000681.1:g.54314061T>G	GRCh37
NC_000019.8:g.59005873T>G	NCBI36
NG_008651.1:g.18588A>C
NG_008651.2:g.18588A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000391773.7:c.852A>C	ENSP00000375653.1:p.Arg284=
ENST00000324134.11:c.852A>C MANE Select	ENSP00000319377.6:p.Arg284=
ENST00000391773.6:c.852A>C	ENSP00000375653.1:p.Arg284=
ENST00000324134.10:c.852A>C	ENSP00000319377.6:p.Arg284=
ENST00000345770.9:c.852A>C	ENSP00000341428.5:p.Arg284=
ENST00000391772.1:c.852A>C	ENSP00000375652.1:p.Arg284=
ENST00000391773.5:c.852A>C	ENSP00000375653.1:p.Arg284=
ENST00000391775.7:c.852A>C	ENSP00000375655.3:p.Arg284=
NM_001277126.1:c.852A>C	NP_001264055.1:p.Arg284=
NM_001277129.1:c.852A>C	NP_001264058.1:p.Arg284=
NM_144687.3:c.852A>C	NP_653288.1:p.Arg284=
XM_011527478.1:c.684A>C	XP_011525780.1:p.Arg228=
XM_011527479.1:c.852A>C	XP_011525781.1:p.Arg284=
XM_011527480.1:c.852A>C	XP_011525782.1:p.Arg284=
XM_011527481.1:c.852A>C	XP_011525783.1:p.Arg284=
XM_011527482.1:c.852A>C	XP_011525784.1:p.Arg284=
XM_011527483.1:c.852A>C	XP_011525785.1:p.Arg284=
XM_017027460.1:c.852A>C	XP_016882949.1:p.Arg284=
XM_017027461.1:c.852A>C	XP_016882950.1:p.Arg284=
XM_017027462.1:c.852A>C	XP_016882951.1:p.Arg284=
XM_017027463.1:c.435A>C	XP_016882952.1:p.Arg145=
XM_017027464.1:c.435A>C	XP_016882953.1:p.Arg145=
XM_017027465.1:c.435A>C	XP_016882954.1:p.Arg145=
XM_017027466.1:c.435A>C	XP_016882955.1:p.Arg145=
XM_017027467.1:c.435A>C	XP_016882956.1:p.Arg145=
NM_001277126.2:c.852A>C	NP_001264055.1:p.Arg284=
NM_144687.4:c.852A>C MANE Select	NP_653288.1:p.Arg284=