Linked Data
dbSNP Id:
rs33996649
ExAC:
1:114394689 C / T
gnomAD v2:
1-114394689-C-T
gnomAD v3:
1-113852067-C-T
gnomAD v4:
1-113852067-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113852067C>T , CM000663.2:g.113852067C>T | GRCh38 |
| NC_000001.10:g.114394689C>T , CM000663.1:g.114394689C>T | GRCh37 |
| NC_000001.9:g.114196212C>T | NCBI36 |
| NG_011432.1:g.24687G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359785.10:c.788G>A (PTPN22) MANE Select | ENSP00000352833.5:p.Arg263Gln | |
| ENST00000359785.9:c.788G>A (PTPN22) | ENSP00000352833.5:p.Arg263Gln | |
| ENST00000420377.6:c.788G>A (PTPN22) | ENSP00000388229.2:p.Arg263Gln | |
| ENST00000460620.5:c.468+4315G>A (PTPN22) | ENSP00000433141.1:n.468+4315G>A | |
| ENST00000484147.5:n.829G>A (PTPN22) | ||
| ENST00000525799.1:c.407G>A (PTPN22) | ENSP00000432674.1:p.Arg136Gln | |
| ENST00000528414.5:c.750+2404G>A (PTPN22) | ENSP00000435176.1:n.750+2404G>A | |
| ENST00000532224.5:c.*66G>A (PTPN22) | ENSP00000431249.1:n.*66G>A | |
| ENST00000538253.5:c.716G>A (PTPN22) | ENSP00000439372.2:p.Arg239Gln | |
| NM_001193431.1:c.788G>A (PTPN22) | NP_001180360.1:p.Arg263Gln | |
| NM_001193431.2:c.788G>A (PTPN22) | NP_001180360.1:p.Arg263Gln | |
| NM_001308297.1:c.716G>A (PTPN22) | NP_001295226.1:p.Arg239Gln | |
| NM_012411.4:c.750+2404G>A (PTPN22) | NP_036543.4:n.750+2404G>A | |
| NM_012411.5:c.750+2404G>A (PTPN22) | NP_036543.4:n.750+2404G>A | |
| NM_015967.5:c.788G>A (PTPN22) | NP_057051.3:p.Arg263Gln | |
| NM_015967.6:c.788G>A (PTPN22) | NP_057051.3:p.Arg263Gln | |
| NR_125965.1:n.414+36595C>T (AP4B1-AS1) | ||
| XM_011541221.1:c.750+2404G>A (PTPN22) | XP_011539523.1:n.750+2404G>A | |
| XM_011541222.1:c.788G>A (PTPN22) | XP_011539524.1:p.Arg263Gln | |
| XM_011541223.1:c.788G>A (PTPN22) | XP_011539525.1:p.Arg263Gln | |
| XM_011541224.1:c.344G>A (PTPN22) | XP_011539526.1:p.Arg115Gln | |
| XM_011541225.1:c.716G>A (PTPN22) | XP_011539527.1:p.Arg239Gln | |
| XM_011541223.2:c.788G>A (PTPN22) | XP_011539525.1:p.Arg263Gln | |
| XM_011541225.2:c.716G>A (PTPN22) | XP_011539527.1:p.Arg239Gln | |
| XM_017001004.1:c.788G>A (PTPN22) | XP_016856493.1:p.Arg263Gln | |
| XM_017001005.2:c.443G>A (PTPN22) | XP_016856494.1:p.Arg148Gln | |
| XM_017001006.1:c.788G>A (PTPN22) | XP_016856495.1:p.Arg263Gln | |
| NM_015967.7:c.788G>A (PTPN22) | NP_057051.3:p.Arg263Gln | |
| NM_015967.8:c.788G>A (PTPN22) MANE Select | NP_057051.4:p.Arg263Gln |