Canonical Allele Identifier: CA1014942
Gene: PTPN22 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2476601

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113834946A>G , CM000663.2:g.113834946A>G GRCh38
NC_000001.10:g.114377568A>G , CM000663.1:g.114377568A>G GRCh37
NC_000001.9:g.114179091A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000359785.10:c.1858T>C (PTPN22) ENSP00000352833.5:p.Trp620Arg
ENST00000359785.9:c.1858T>C (PTPN22) ENSP00000352833.5:p.Trp620Arg
ENST00000420377.6:c.1858T>C (PTPN22) ENSP00000388229.2:p.Trp620Arg
ENST00000460620.5:c.469-15292T>C (PTPN22) ENSP00000433141.1:n.469-15292T>C
ENST00000484147.5:n.1899T>C (PTPN22)
ENST00000525799.1:c.1477T>C (PTPN22) ENSP00000432674.1:p.Trp493Arg
ENST00000528414.5:c.1693T>C (PTPN22) ENSP00000435176.1:p.Trp565Arg
ENST00000532224.5:c.*1136T>C (PTPN22) ENSP00000431249.1:n.*1136T>C
ENST00000538253.5:c.1786T>C (PTPN22) ENSP00000439372.2:p.Trp596Arg
NR_125965.1:n.414+19474A>G (AP4B1-AS1)
XM_011541221.1:c.1780T>C (PTPN22) XP_011539523.1:p.Trp594Arg
XM_011541222.1:c.1858T>C (PTPN22) XP_011539524.1:p.Trp620Arg
XM_011541223.1:c.1858T>C (PTPN22) XP_011539525.1:p.Trp620Arg
XM_011541224.1:c.1414T>C (PTPN22) XP_011539526.1:p.Trp472Arg
XM_011541225.1:c.1786T>C (PTPN22) XP_011539527.1:p.Trp596Arg
XM_011541223.2:c.1858T>C (PTPN22) XP_011539525.1:p.Trp620Arg
XM_011541225.2:c.1786T>C (PTPN22) XP_011539527.1:p.Trp596Arg
XM_017001004.1:c.1858T>C (PTPN22) XP_016856493.1:p.Trp620Arg
XM_017001005.2:c.1513T>C (PTPN22) XP_016856494.1:p.Trp505Arg
NM_015967.8:c.1858T>C (PTPN22) NP_057051.4:p.Trp620Arg