Linked Data
dbSNP Id:
rs2476601
ExAC:
1:114377568 A / G
gnomAD v2:
1-114377568-A-G
gnomAD v3:
1-113834946-A-G
gnomAD v4:
1-113834946-A-G
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) MANE Select | 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) MANE Select | NP_057051.4:p.Trp620Arg |