Canonical Allele Identifier: CA407409320
Community Standard Title: NM_144687.4(NLRP12):c.2578A>T (p.Thr860Ser)
Gene: NLRP12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.53803959T>A , CM000681.2:g.53803959T>A GRCh38
NC_000019.9:g.54307213T>A , CM000681.1:g.54307213T>A GRCh37
NC_000019.8:g.58999025T>A NCBI36
NG_008651.1:g.25436A>T
NG_008651.2:g.25436A>T

Transcript Alleles

HGVS Amino-acid Change
NM_144687.4:c.2578A>T MANE Select NP_653288.1:p.Thr860Ser
ENST00000324134.11:c.2578A>T MANE Select ENSP00000319377.6:p.Thr860Ser
NM_001277126.1:c.2581A>T NP_001264055.1:p.Thr861Ser
NM_001277126.2:c.2581A>T NP_001264055.1:p.Thr861Ser
NM_001277129.1:c.2578A>T NP_001264058.1:p.Thr860Ser
NM_144687.3:c.2578A>T NP_653288.1:p.Thr860Ser
ENST00000324134.10:c.2578A>T ENSP00000319377.6:p.Thr860Ser
ENST00000345770.9:c.2581A>T ENSP00000341428.5:p.Thr861Ser
ENST00000391772.1:c.2581A>T ENSP00000375652.1:p.Thr861Ser
ENST00000391773.5:c.2581A>T ENSP00000375653.1:p.Thr861Ser
ENST00000391773.6:c.2581A>T ENSP00000375653.1:p.Thr861Ser
ENST00000391773.7:c.2581A>T ENSP00000375653.1:p.Thr861Ser
ENST00000391775.7:c.2578A>T ENSP00000375655.3:p.Thr860Ser
ENST00000492915.1:n.1736A>T
XM_011527478.1:c.2413A>T XP_011525780.1:p.Thr805Ser
XM_011527479.1:c.2417+1321A>T XP_011525781.1:n.2417+1321A>T
XM_011527480.1:c.2581A>T XP_011525782.1:p.Thr861Ser
XM_011527481.1:c.2581A>T XP_011525783.1:p.Thr861Ser
XM_011527482.1:c.2581A>T XP_011525784.1:p.Thr861Ser
XM_011527483.1:c.2073-2562A>T XP_011525785.1:n.2073-2562A>T
XM_017027460.1:c.2581A>T XP_016882949.1:p.Thr861Ser
XM_017027461.1:c.2581A>T XP_016882950.1:p.Thr861Ser
XM_017027462.1:c.2407A>T XP_016882951.1:p.Thr803Ser
XM_017027463.1:c.2164A>T XP_016882952.1:p.Thr722Ser
XM_017027464.1:c.2164A>T XP_016882953.1:p.Thr722Ser
XM_017027465.1:c.2164A>T XP_016882954.1:p.Thr722Ser
XM_017027466.1:c.2164A>T XP_016882955.1:p.Thr722Ser
XM_017027467.1:c.2164A>T XP_016882956.1:p.Thr722Ser