Canonical Allele Identifier: CA9639239

Gene: NLRP12

Linked Data

• ClinVar Variation Id: 1230124
• ClinVar RCV Id: RCV001614581
• dbSNP Id: rs2866112
• ExAC: 19:54310961 G / C
• gnomAD v2: 19-54310961-G-C
• gnomAD v3: 19-53807707-G-C
• gnomAD v4: 19-53807707-G-C
• MyVariant Identifiers: chr19:g.54310961G>C (hg19) ; chr19:g.53807707G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53807707G>C , CM000681.2:g.53807707G>C	GRCh38
NC_000019.9:g.54310961G>C , CM000681.1:g.54310961G>C	GRCh37
NC_000019.8:g.59002773G>C	NCBI36
NG_008651.1:g.21688C>G
NG_008651.2:g.21688C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391773.7:c.2073-39C>G	ENSP00000375653.1:n.2073-39C>G
ENST00000324134.11:c.2073-42C>G MANE Select	ENSP00000319377.6:n.2073-42C>G
ENST00000391773.6:c.2073-39C>G	ENSP00000375653.1:n.2073-39C>G
ENST00000324134.10:c.2073-42C>G	ENSP00000319377.6:n.2073-42C>G
ENST00000345770.9:c.2073-39C>G	ENSP00000341428.5:n.2073-39C>G
ENST00000391772.1:c.2073-39C>G	ENSP00000375652.1:n.2073-39C>G
ENST00000391773.5:c.2073-39C>G	ENSP00000375653.1:n.2073-39C>G
ENST00000391775.7:c.2073-42C>G	ENSP00000375655.3:n.2073-42C>G
ENST00000492915.1:n.999C>G
NM_001277126.1:c.2073-39C>G	NP_001264055.1:n.2073-39C>G
NM_001277129.1:c.2073-42C>G	NP_001264058.1:n.2073-42C>G
NM_144687.3:c.2073-42C>G	NP_653288.1:n.2073-42C>G
XM_011527478.1:c.1905-39C>G	XP_011525780.1:n.1905-39C>G
XM_011527479.1:c.2073-39C>G	XP_011525781.1:n.2073-39C>G
XM_011527480.1:c.2073-39C>G	XP_011525782.1:n.2073-39C>G
XM_011527481.1:c.2073-39C>G	XP_011525783.1:n.2073-39C>G
XM_011527482.1:c.2073-39C>G	XP_011525784.1:n.2073-39C>G
XM_011527483.1:c.2072+1880C>G	XP_011525785.1:n.2072+1880C>G
XM_017027460.1:c.2073-39C>G	XP_016882949.1:n.2073-39C>G
XM_017027461.1:c.2073-39C>G	XP_016882950.1:n.2073-39C>G
XM_017027462.1:c.2072+1880C>G	XP_016882951.1:n.2072+1880C>G
XM_017027463.1:c.1656-39C>G	XP_016882952.1:n.1656-39C>G
XM_017027464.1:c.1656-39C>G	XP_016882953.1:n.1656-39C>G
XM_017027465.1:c.1656-39C>G	XP_016882954.1:n.1656-39C>G
XM_017027466.1:c.1656-39C>G	XP_016882955.1:n.1656-39C>G
XM_017027467.1:c.1656-39C>G	XP_016882956.1:n.1656-39C>G
NM_001277126.2:c.2073-39C>G	NP_001264055.1:n.2073-39C>G
NM_144687.4:c.2073-42C>G MANE Select	NP_653288.1:n.2073-42C>G