Canonical Allele Identifier: CA508770847

Gene: NLRP12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53798404G>A , CM000681.2:g.53798404G>A	GRCh38
NC_000019.9:g.54301658G>A , CM000681.1:g.54301658G>A	GRCh37
NC_000019.8:g.58993470G>A	NCBI36
NG_008651.1:g.30991C>T
NG_008651.2:g.30991C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_144687.4:c.2766C>T MANE Select	NP_653288.1:p.Ile922=
ENST00000324134.11:c.2766C>T MANE Select	ENSP00000319377.6:p.Ile922=
NM_001277126.1:c.2769C>T	NP_001264055.1:p.Ile923=
NM_001277126.2:c.2769C>T	NP_001264055.1:p.Ile923=
NM_001277129.1:c.2757-2375C>T	NP_001264058.1:n.2757-2375C>T
NM_144687.3:c.2766C>T	NP_653288.1:p.Ile922=
ENST00000324134.10:c.2766C>T	ENSP00000319377.6:p.Ile922=
ENST00000345770.9:c.2769C>T	ENSP00000341428.5:p.Ile923=
ENST00000391772.1:c.2592-4268C>T	ENSP00000375652.1:n.2592-4268C>T
ENST00000391773.5:c.2769C>T	ENSP00000375653.1:p.Ile923=
ENST00000391773.6:c.2769C>T	ENSP00000375653.1:p.Ile923=
ENST00000391773.7:c.2769C>T	ENSP00000375653.1:p.Ile923=
ENST00000391775.7:c.2757-2375C>T	ENSP00000375655.3:n.2757-2375C>T
ENST00000492915.1:n.1915-2375C>T
XM_011527478.1:c.2601C>T	XP_011525780.1:p.Ile867=
XM_011527479.1:c.2598C>T	XP_011525781.1:p.Ile866=
XM_011527480.1:c.2760-2375C>T	XP_011525782.1:n.2760-2375C>T
XM_011527481.1:c.2887C>T	XP_011525783.1:p.Leu963=
XM_011527482.1:c.2589-2375C>T	XP_011525784.1:n.2589-2375C>T
XM_011527483.1:c.2253C>T	XP_011525785.1:p.Ile751=
XM_017027460.1:c.2769C>T	XP_016882949.1:p.Ile923=
XM_017027461.1:c.2769C>T	XP_016882950.1:p.Ile923=
XM_017027462.1:c.2595C>T	XP_016882951.1:p.Ile865=
XM_017027463.1:c.2352C>T	XP_016882952.1:p.Ile784=
XM_017027464.1:c.2352C>T	XP_016882953.1:p.Ile784=
XM_017027465.1:c.2352C>T	XP_016882954.1:p.Ile784=
XM_017027466.1:c.2352C>T	XP_016882955.1:p.Ile784=
XM_017027467.1:c.2352C>T	XP_016882956.1:p.Ile784=