Canonical Allele Identifier: CA407407990

Gene: NLRP12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53798379C>A , CM000681.2:g.53798379C>A	GRCh38
NC_000019.9:g.54301633C>A , CM000681.1:g.54301633C>A	GRCh37
NC_000019.8:g.58993445C>A	NCBI36
NG_008651.1:g.31016G>T
NG_008651.2:g.31016G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_144687.4:c.2791G>T MANE Select	NP_653288.1:p.Glu931Ter
ENST00000324134.11:c.2791G>T MANE Select	ENSP00000319377.6:p.Glu931Ter
NM_001277126.1:c.2794G>T	NP_001264055.1:p.Glu932Ter
NM_001277126.2:c.2794G>T	NP_001264055.1:p.Glu932Ter
NM_001277129.1:c.2757-2350G>T	NP_001264058.1:n.2757-2350G>T
NM_144687.3:c.2791G>T	NP_653288.1:p.Glu931Ter
ENST00000324134.10:c.2791G>T	ENSP00000319377.6:p.Glu931Ter
ENST00000345770.9:c.2794G>T	ENSP00000341428.5:p.Glu932Ter
ENST00000391772.1:c.2592-4243G>T	ENSP00000375652.1:n.2592-4243G>T
ENST00000391773.5:c.2794G>T	ENSP00000375653.1:p.Glu932Ter
ENST00000391773.6:c.2794G>T	ENSP00000375653.1:p.Glu932Ter
ENST00000391773.7:c.2794G>T	ENSP00000375653.1:p.Glu932Ter
ENST00000391775.7:c.2757-2350G>T	ENSP00000375655.3:n.2757-2350G>T
ENST00000492915.1:n.1915-2350G>T
XM_011527478.1:c.2626G>T	XP_011525780.1:p.Glu876Ter
XM_011527479.1:c.2623G>T	XP_011525781.1:p.Glu875Ter
XM_011527480.1:c.2760-2350G>T	XP_011525782.1:n.2760-2350G>T
XM_011527481.1:c.2912G>T	XP_011525783.1:p.Ter971Leu
XM_011527482.1:c.2589-2350G>T	XP_011525784.1:n.2589-2350G>T
XM_011527483.1:c.2278G>T	XP_011525785.1:p.Glu760Ter
XM_017027460.1:c.2794G>T	XP_016882949.1:p.Glu932Ter
XM_017027461.1:c.2794G>T	XP_016882950.1:p.Glu932Ter
XM_017027462.1:c.2620G>T	XP_016882951.1:p.Glu874Ter
XM_017027463.1:c.2377G>T	XP_016882952.1:p.Glu793Ter
XM_017027464.1:c.2377G>T	XP_016882953.1:p.Glu793Ter
XM_017027465.1:c.2377G>T	XP_016882954.1:p.Glu793Ter
XM_017027466.1:c.2377G>T	XP_016882955.1:p.Glu793Ter
XM_017027467.1:c.2377G>T	XP_016882956.1:p.Glu793Ter