Canonical Allele Identifier: CA9639039

Gene: NLRP12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53803963T>C , CM000681.2:g.53803963T>C	GRCh38
NC_000019.9:g.54307217T>C , CM000681.1:g.54307217T>C	GRCh37
NC_000019.8:g.58999029T>C	NCBI36
NG_008651.1:g.25432A>G
NG_008651.2:g.25432A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_144687.4:c.2574A>G MANE Select	NP_653288.1:p.Leu858=
ENST00000324134.11:c.2574A>G MANE Select	ENSP00000319377.6:p.Leu858=
NM_001277126.1:c.2577A>G	NP_001264055.1:p.Leu859=
NM_001277126.2:c.2577A>G	NP_001264055.1:p.Leu859=
NM_001277129.1:c.2574A>G	NP_001264058.1:p.Leu858=
NM_144687.3:c.2574A>G	NP_653288.1:p.Leu858=
ENST00000324134.10:c.2574A>G	ENSP00000319377.6:p.Leu858=
ENST00000345770.9:c.2577A>G	ENSP00000341428.5:p.Leu859=
ENST00000391772.1:c.2577A>G	ENSP00000375652.1:p.Leu859=
ENST00000391773.5:c.2577A>G	ENSP00000375653.1:p.Leu859=
ENST00000391773.6:c.2577A>G	ENSP00000375653.1:p.Leu859=
ENST00000391773.7:c.2577A>G	ENSP00000375653.1:p.Leu859=
ENST00000391775.7:c.2574A>G	ENSP00000375655.3:p.Leu858=
ENST00000492915.1:n.1732A>G
XM_011527478.1:c.2409A>G	XP_011525780.1:p.Leu803=
XM_011527479.1:c.2417+1317A>G	XP_011525781.1:n.2417+1317A>G
XM_011527480.1:c.2577A>G	XP_011525782.1:p.Leu859=
XM_011527481.1:c.2577A>G	XP_011525783.1:p.Leu859=
XM_011527482.1:c.2577A>G	XP_011525784.1:p.Leu859=
XM_011527483.1:c.2073-2566A>G	XP_011525785.1:n.2073-2566A>G
XM_017027460.1:c.2577A>G	XP_016882949.1:p.Leu859=
XM_017027461.1:c.2577A>G	XP_016882950.1:p.Leu859=
XM_017027462.1:c.2403A>G	XP_016882951.1:p.Leu801=
XM_017027463.1:c.2160A>G	XP_016882952.1:p.Leu720=
XM_017027464.1:c.2160A>G	XP_016882953.1:p.Leu720=
XM_017027465.1:c.2160A>G	XP_016882954.1:p.Leu720=
XM_017027466.1:c.2160A>G	XP_016882955.1:p.Leu720=
XM_017027467.1:c.2160A>G	XP_016882956.1:p.Leu720=