Canonical Allele Identifier: CA9638879

Gene: NLRP12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53798291A>T , CM000681.2:g.53798291A>T	GRCh38
NC_000019.9:g.54301545A>T , CM000681.1:g.54301545A>T	GRCh37
NC_000019.8:g.58993357A>T	NCBI36
NG_008651.1:g.31104T>A
NG_008651.2:g.31104T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_144687.4:c.2879T>A MANE Select	NP_653288.1:p.Leu960Ter
ENST00000324134.11:c.2879T>A MANE Select	ENSP00000319377.6:p.Leu960Ter
NM_001277126.1:c.2882T>A	NP_001264055.1:p.Leu961Ter
NM_001277126.2:c.2882T>A	NP_001264055.1:p.Leu961Ter
NM_001277129.1:c.2757-2262T>A	NP_001264058.1:n.2757-2262T>A
NM_144687.3:c.2879T>A	NP_653288.1:p.Leu960Ter
ENST00000324134.10:c.2879T>A	ENSP00000319377.6:p.Leu960Ter
ENST00000345770.9:c.2882T>A	ENSP00000341428.5:p.Leu961Ter
ENST00000391772.1:c.2592-4155T>A	ENSP00000375652.1:n.2592-4155T>A
ENST00000391773.5:c.2882T>A	ENSP00000375653.1:p.Leu961Ter
ENST00000391773.6:c.2882T>A	ENSP00000375653.1:p.Leu961Ter
ENST00000391773.7:c.2882T>A	ENSP00000375653.1:p.Leu961Ter
ENST00000391775.7:c.2757-2262T>A	ENSP00000375655.3:n.2757-2262T>A
ENST00000492915.1:n.1915-2262T>A
XM_011527478.1:c.2714T>A	XP_011525780.1:p.Leu905Ter
XM_011527479.1:c.2711T>A	XP_011525781.1:p.Leu904Ter
XM_011527480.1:c.2760-2262T>A	XP_011525782.1:n.2760-2262T>A
XM_011527481.1:c.*87T>A	XP_011525783.1:n.*87T>A
XM_011527482.1:c.2589-2262T>A	XP_011525784.1:n.2589-2262T>A
XM_011527483.1:c.2366T>A	XP_011525785.1:p.Leu789Ter
XM_017027460.1:c.2882T>A	XP_016882949.1:p.Leu961Ter
XM_017027461.1:c.2882T>A	XP_016882950.1:p.Leu961Ter
XM_017027462.1:c.2708T>A	XP_016882951.1:p.Leu903Ter
XM_017027463.1:c.2465T>A	XP_016882952.1:p.Leu822Ter
XM_017027464.1:c.2465T>A	XP_016882953.1:p.Leu822Ter
XM_017027465.1:c.2465T>A	XP_016882954.1:p.Leu822Ter
XM_017027466.1:c.2465T>A	XP_016882955.1:p.Leu822Ter
XM_017027467.1:c.2465T>A	XP_016882956.1:p.Leu822Ter