Canonical Allele Identifier: CA407407532

Gene: NLRP12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53795957C>A , CM000681.2:g.53795957C>A	GRCh38
NC_000019.9:g.54299211C>A , CM000681.1:g.54299211C>A	GRCh37
NC_000019.8:g.58991023C>A	NCBI36
NG_008651.1:g.33438G>T
NG_008651.2:g.33438G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_144687.4:c.3000G>T MANE Select	NP_653288.1:p.Leu1000Phe
ENST00000324134.11:c.3000G>T MANE Select	ENSP00000319377.6:p.Leu1000Phe
NM_001277126.1:c.3003G>T	NP_001264055.1:p.Leu1001Phe
NM_001277126.2:c.3003G>T	NP_001264055.1:p.Leu1001Phe
NM_001277129.1:c.2829G>T	NP_001264058.1:p.Leu943Phe
NM_144687.3:c.3000G>T	NP_653288.1:p.Leu1000Phe
ENST00000324134.10:c.3000G>T	ENSP00000319377.6:p.Leu1000Phe
ENST00000345770.9:c.2934-1821G>T	ENSP00000341428.5:n.2934-1821G>T
ENST00000391772.1:c.2592-1821G>T	ENSP00000375652.1:n.2592-1821G>T
ENST00000391773.5:c.3003G>T	ENSP00000375653.1:p.Leu1001Phe
ENST00000391773.6:c.3003G>T	ENSP00000375653.1:p.Leu1001Phe
ENST00000391773.7:c.3003G>T	ENSP00000375653.1:p.Leu1001Phe
ENST00000391775.7:c.2829G>T	ENSP00000375655.3:p.Leu943Phe
ENST00000492915.1:n.1987G>T
XM_011527478.1:c.2835G>T	XP_011525780.1:p.Leu945Phe
XM_011527479.1:c.2832G>T	XP_011525781.1:p.Leu944Phe
XM_011527480.1:c.2832G>T	XP_011525782.1:p.Leu944Phe
XM_011527482.1:c.2661G>T	XP_011525784.1:p.Leu887Phe
XM_011527483.1:c.2487G>T	XP_011525785.1:p.Leu829Phe
XM_017027460.1:c.3000G>T	XP_016882949.1:p.Leu1000Phe
XM_017027461.1:c.2931-1821G>T	XP_016882950.1:n.2931-1821G>T
XM_017027462.1:c.2829G>T	XP_016882951.1:p.Leu943Phe
XM_017027463.1:c.2586G>T	XP_016882952.1:p.Leu862Phe
XM_017027464.1:c.2586G>T	XP_016882953.1:p.Leu862Phe
XM_017027465.1:c.2586G>T	XP_016882954.1:p.Leu862Phe
XM_017027466.1:c.2586G>T	XP_016882955.1:p.Leu862Phe
XM_017027467.1:c.2586G>T	XP_016882956.1:p.Leu862Phe