Linked Data
dbSNP Id:
rs773729379
ExAC:
1:114372572 A / G
gnomAD v2:
1-114372572-A-G
gnomAD v4:
1-113829950-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113829950A>G , CM000663.2:g.113829950A>G | GRCh38 |
| NC_000001.10:g.114372572A>G , CM000663.1:g.114372572A>G | GRCh37 |
| NC_000001.9:g.114174095A>G | NCBI36 |
| NG_011432.1:g.46804T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359785.10:c.2133T>C (PTPN22) MANE Select | ENSP00000352833.5:p.Asp711= | |
| ENST00000359785.9:c.2133T>C (PTPN22) | ENSP00000352833.5:p.Asp711= | |
| ENST00000420377.6:c.2133T>C (PTPN22) | ENSP00000388229.2:p.Asp711= | |
| ENST00000460620.5:c.469-10296T>C (PTPN22) | ENSP00000433141.1:n.469-10296T>C | |
| ENST00000525799.1:c.1752T>C (PTPN22) | ENSP00000432674.1:p.Asp584= | |
| ENST00000528414.5:c.1968T>C (PTPN22) | ENSP00000435176.1:p.Asp656= | |
| ENST00000532224.5:c.*1411T>C (PTPN22) | ENSP00000431249.1:n.*1411T>C | |
| ENST00000538253.5:c.2061T>C (PTPN22) | ENSP00000439372.2:p.Asp687= | |
| NM_001193431.1:c.2049T>C (PTPN22) | NP_001180360.1:p.Asp683= | |
| NM_001193431.2:c.2049T>C (PTPN22) | NP_001180360.1:p.Asp683= | |
| NM_001308297.1:c.2061T>C (PTPN22) | NP_001295226.1:p.Asp687= | |
| NM_012411.4:c.1968T>C (PTPN22) | NP_036543.4:p.Asp656= | |
| NM_012411.5:c.1968T>C (PTPN22) | NP_036543.4:p.Asp656= | |
| NM_015967.5:c.2133T>C (PTPN22) | NP_057051.3:p.Asp711= | |
| NM_015967.6:c.2133T>C (PTPN22) | NP_057051.3:p.Asp711= | |
| NR_125965.1:n.414+14478A>G (AP4B1-AS1) | ||
| XM_011541221.1:c.2055T>C (PTPN22) | XP_011539523.1:p.Asp685= | |
| XM_011541222.1:c.2133T>C (PTPN22) | XP_011539524.1:p.Asp711= | |
| XM_011541224.1:c.1689T>C (PTPN22) | XP_011539526.1:p.Asp563= | |
| XM_011541225.1:c.2061T>C (PTPN22) | XP_011539527.1:p.Asp687= | |
| XM_011541225.2:c.2061T>C (PTPN22) | XP_011539527.1:p.Asp687= | |
| XM_017001004.1:c.2133T>C (PTPN22) | XP_016856493.1:p.Asp711= | |
| XM_017001005.2:c.1788T>C (PTPN22) | XP_016856494.1:p.Asp596= | |
| NM_015967.7:c.2133T>C (PTPN22) | NP_057051.3:p.Asp711= | |
| NM_015967.8:c.2133T>C (PTPN22) MANE Select | NP_057051.4:p.Asp711= |