Canonical Allele Identifier: CA407408483

Gene: NLRP12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53801331C>A , CM000681.2:g.53801331C>A	GRCh38
NC_000019.9:g.54304585C>A , CM000681.1:g.54304585C>A	GRCh37
NC_000019.8:g.58996397C>A	NCBI36
NG_008651.1:g.28064G>T
NG_008651.2:g.28064G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_144687.4:c.2652G>T MANE Select	NP_653288.1:p.Gln884His
ENST00000324134.11:c.2652G>T MANE Select	ENSP00000319377.6:p.Gln884His
NM_001277126.1:c.2655G>T	NP_001264055.1:p.Gln885His
NM_001277126.2:c.2655G>T	NP_001264055.1:p.Gln885His
NM_001277129.1:c.2652G>T	NP_001264058.1:p.Gln884His
NM_144687.3:c.2652G>T	NP_653288.1:p.Gln884His
ENST00000324134.10:c.2652G>T	ENSP00000319377.6:p.Gln884His
ENST00000345770.9:c.2655G>T	ENSP00000341428.5:p.Gln885His
ENST00000391772.1:c.2591+2618G>T	ENSP00000375652.1:n.2591+2618G>T
ENST00000391773.5:c.2655G>T	ENSP00000375653.1:p.Gln885His
ENST00000391773.6:c.2655G>T	ENSP00000375653.1:p.Gln885His
ENST00000391773.7:c.2655G>T	ENSP00000375653.1:p.Gln885His
ENST00000391775.7:c.2652G>T	ENSP00000375655.3:p.Gln884His
ENST00000492915.1:n.1810G>T
XM_011527478.1:c.2487G>T	XP_011525780.1:p.Gln829His
XM_011527479.1:c.2484G>T	XP_011525781.1:p.Gln828His
XM_011527480.1:c.2655G>T	XP_011525782.1:p.Gln885His
XM_011527481.1:c.2655G>T	XP_011525783.1:p.Gln885His
XM_011527482.1:c.2588+2621G>T	XP_011525784.1:n.2588+2621G>T
XM_011527483.1:c.2139G>T	XP_011525785.1:p.Gln713His
XM_017027460.1:c.2655G>T	XP_016882949.1:p.Gln885His
XM_017027461.1:c.2655G>T	XP_016882950.1:p.Gln885His
XM_017027462.1:c.2481G>T	XP_016882951.1:p.Gln827His
XM_017027463.1:c.2238G>T	XP_016882952.1:p.Gln746His
XM_017027464.1:c.2238G>T	XP_016882953.1:p.Gln746His
XM_017027465.1:c.2238G>T	XP_016882954.1:p.Gln746His
XM_017027466.1:c.2238G>T	XP_016882955.1:p.Gln746His
XM_017027467.1:c.2238G>T	XP_016882956.1:p.Gln746His