Linked Data
dbSNP Id:
rs1217407
gnomAD v2:
1-114393748-A-G
gnomAD v3:
1-113851126-A-G
gnomAD v4:
1-113851126-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113851126A>G , CM000663.2:g.113851126A>G | GRCh38 |
| NC_000001.10:g.114393748A>G , CM000663.1:g.114393748A>G | GRCh37 |
| NC_000001.9:g.114195271A>G | NCBI36 |
| NG_011432.1:g.25628T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359785.10:c.828+901T>C (PTPN22) MANE Select | ENSP00000352833.5:n.828+901T>C | |
| ENST00000359785.9:c.828+901T>C (PTPN22) | ENSP00000352833.5:n.828+901T>C | |
| ENST00000420377.6:c.828+901T>C (PTPN22) | ENSP00000388229.2:n.828+901T>C | |
| ENST00000460620.5:c.468+5256T>C (PTPN22) | ENSP00000433141.1:n.468+5256T>C | |
| ENST00000484147.5:n.869+901T>C (PTPN22) | ||
| ENST00000525799.1:c.447+901T>C (PTPN22) | ENSP00000432674.1:n.447+901T>C | |
| ENST00000528414.5:c.750+3345T>C (PTPN22) | ENSP00000435176.1:n.750+3345T>C | |
| ENST00000532224.5:c.*106+901T>C (PTPN22) | ENSP00000431249.1:n.*106+901T>C | |
| ENST00000538253.5:c.756+901T>C (PTPN22) | ENSP00000439372.2:n.756+901T>C | |
| NM_001193431.1:c.828+901T>C (PTPN22) | NP_001180360.1:n.828+901T>C | |
| NM_001193431.2:c.828+901T>C (PTPN22) | NP_001180360.1:n.828+901T>C | |
| NM_001308297.1:c.756+901T>C (PTPN22) | NP_001295226.1:n.756+901T>C | |
| NM_012411.4:c.750+3345T>C (PTPN22) | NP_036543.4:n.750+3345T>C | |
| NM_012411.5:c.750+3345T>C (PTPN22) | NP_036543.4:n.750+3345T>C | |
| NM_015967.5:c.828+901T>C (PTPN22) | NP_057051.3:n.828+901T>C | |
| NM_015967.6:c.828+901T>C (PTPN22) | NP_057051.3:n.828+901T>C | |
| NR_125965.1:n.414+35654A>G (AP4B1-AS1) | ||
| XM_011541221.1:c.751-2500T>C (PTPN22) | XP_011539523.1:n.751-2500T>C | |
| XM_011541222.1:c.828+901T>C (PTPN22) | XP_011539524.1:n.828+901T>C | |
| XM_011541223.1:c.828+901T>C (PTPN22) | XP_011539525.1:n.828+901T>C | |
| XM_011541224.1:c.384+901T>C (PTPN22) | XP_011539526.1:n.384+901T>C | |
| XM_011541225.1:c.756+901T>C (PTPN22) | XP_011539527.1:n.756+901T>C | |
| XM_011541223.2:c.828+901T>C (PTPN22) | XP_011539525.1:n.828+901T>C | |
| XM_011541225.2:c.756+901T>C (PTPN22) | XP_011539527.1:n.756+901T>C | |
| XM_017001004.1:c.828+901T>C (PTPN22) | XP_016856493.1:n.828+901T>C | |
| XM_017001005.2:c.483+901T>C (PTPN22) | XP_016856494.1:n.483+901T>C | |
| XM_017001006.1:c.828+901T>C (PTPN22) | XP_016856495.1:n.828+901T>C | |
| NM_015967.7:c.828+901T>C (PTPN22) | NP_057051.3:n.828+901T>C | |
| NM_015967.8:c.828+901T>C (PTPN22) MANE Select | NP_057051.4:n.828+901T>C |