Canonical Allele Identifier: CA341701630
Gene: PTPN22 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113829953T>A , CM000663.2:g.113829953T>A GRCh38
NC_000001.10:g.114372575T>A , CM000663.1:g.114372575T>A GRCh37
NC_000001.9:g.114174098T>A NCBI36
NG_011432.1:g.46801A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359785.10:c.2130A>T (PTPN22) MANE Select ENSP00000352833.5:p.Glu710Asp
ENST00000359785.9:c.2130A>T (PTPN22) ENSP00000352833.5:p.Glu710Asp
ENST00000420377.6:c.2130A>T (PTPN22) ENSP00000388229.2:p.Glu710Asp
ENST00000460620.5:c.469-10299A>T (PTPN22) ENSP00000433141.1:n.469-10299A>T
ENST00000525799.1:c.1749A>T (PTPN22) ENSP00000432674.1:p.Glu583Asp
ENST00000528414.5:c.1965A>T (PTPN22) ENSP00000435176.1:p.Glu655Asp
ENST00000532224.5:c.*1408A>T (PTPN22) ENSP00000431249.1:n.*1408A>T
ENST00000538253.5:c.2058A>T (PTPN22) ENSP00000439372.2:p.Glu686Asp
NM_001193431.1:c.2046A>T (PTPN22) NP_001180360.1:p.Glu682Asp
NM_001193431.2:c.2046A>T (PTPN22) NP_001180360.1:p.Glu682Asp
NM_001308297.1:c.2058A>T (PTPN22) NP_001295226.1:p.Glu686Asp
NM_012411.4:c.1965A>T (PTPN22) NP_036543.4:p.Glu655Asp
NM_012411.5:c.1965A>T (PTPN22) NP_036543.4:p.Glu655Asp
NM_015967.5:c.2130A>T (PTPN22) NP_057051.3:p.Glu710Asp
NM_015967.6:c.2130A>T (PTPN22) NP_057051.3:p.Glu710Asp
NR_125965.1:n.414+14481T>A (AP4B1-AS1)
XM_011541221.1:c.2052A>T (PTPN22) XP_011539523.1:p.Glu684Asp
XM_011541222.1:c.2130A>T (PTPN22) XP_011539524.1:p.Glu710Asp
XM_011541224.1:c.1686A>T (PTPN22) XP_011539526.1:p.Glu562Asp
XM_011541225.1:c.2058A>T (PTPN22) XP_011539527.1:p.Glu686Asp
XM_011541225.2:c.2058A>T (PTPN22) XP_011539527.1:p.Glu686Asp
XM_017001004.1:c.2130A>T (PTPN22) XP_016856493.1:p.Glu710Asp
XM_017001005.2:c.1785A>T (PTPN22) XP_016856494.1:p.Glu595Asp
NM_015967.7:c.2130A>T (PTPN22) NP_057051.3:p.Glu710Asp
NM_015967.8:c.2130A>T (PTPN22) MANE Select NP_057051.4:p.Glu710Asp