Canonical Allele Identifier: CA9638888

Gene: NLRP12

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53798339C>T , CM000681.2:g.53798339C>T	GRCh38
NC_000019.9:g.54301593C>T , CM000681.1:g.54301593C>T	GRCh37
NC_000019.8:g.58993405C>T	NCBI36
NG_008651.1:g.31056G>A
NG_008651.2:g.31056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391773.7:c.2834G>A	ENSP00000375653.1:p.Arg945Gln
ENST00000324134.11:c.2831G>A MANE Select	ENSP00000319377.6:p.Arg944Gln
ENST00000391773.6:c.2834G>A	ENSP00000375653.1:p.Arg945Gln
ENST00000324134.10:c.2831G>A	ENSP00000319377.6:p.Arg944Gln
ENST00000345770.9:c.2834G>A	ENSP00000341428.5:p.Arg945Gln
ENST00000391772.1:c.2592-4203G>A	ENSP00000375652.1:n.2592-4203G>A
ENST00000391773.5:c.2834G>A	ENSP00000375653.1:p.Arg945Gln
ENST00000391775.7:c.2757-2310G>A	ENSP00000375655.3:n.2757-2310G>A
ENST00000492915.1:n.1915-2310G>A
NM_001277126.1:c.2834G>A	NP_001264055.1:p.Arg945Gln
NM_001277129.1:c.2757-2310G>A	NP_001264058.1:n.2757-2310G>A
NM_144687.3:c.2831G>A	NP_653288.1:p.Arg944Gln
XM_011527478.1:c.2666G>A	XP_011525780.1:p.Arg889Gln
XM_011527479.1:c.2663G>A	XP_011525781.1:p.Arg888Gln
XM_011527480.1:c.2760-2310G>A	XP_011525782.1:n.2760-2310G>A
XM_011527481.1:c.*39G>A	XP_011525783.1:n.*39G>A
XM_011527482.1:c.2589-2310G>A	XP_011525784.1:n.2589-2310G>A
XM_011527483.1:c.2318G>A	XP_011525785.1:p.Arg773Gln
XM_017027460.1:c.2834G>A	XP_016882949.1:p.Arg945Gln
XM_017027461.1:c.2834G>A	XP_016882950.1:p.Arg945Gln
XM_017027462.1:c.2660G>A	XP_016882951.1:p.Arg887Gln
XM_017027463.1:c.2417G>A	XP_016882952.1:p.Arg806Gln
XM_017027464.1:c.2417G>A	XP_016882953.1:p.Arg806Gln
XM_017027465.1:c.2417G>A	XP_016882954.1:p.Arg806Gln
XM_017027466.1:c.2417G>A	XP_016882955.1:p.Arg806Gln
XM_017027467.1:c.2417G>A	XP_016882956.1:p.Arg806Gln
NM_001277126.2:c.2834G>A	NP_001264055.1:p.Arg945Gln
NM_144687.4:c.2831G>A MANE Select	NP_653288.1:p.Arg944Gln