Linked Data
dbSNP Id:
rs1217413
gnomAD v2:
1-114357750-G-A
gnomAD v3:
1-113815128-G-A
gnomAD v4:
1-113815128-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113815128G>A , CM000663.2:g.113815128G>A | GRCh38 |
| NC_000001.10:g.114357750G>A , CM000663.1:g.114357750G>A | GRCh37 |
| NC_000001.9:g.114159273G>A | NCBI36 |
| NG_011432.1:g.61626C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359785.10:c.2360-159C>T (PTPN22) MANE Select | ENSP00000352833.5:n.2360-159C>T | |
| ENST00000359785.9:c.2360-159C>T (PTPN22) | ENSP00000352833.5:n.2360-159C>T | |
| ENST00000460620.5:c.*7-159C>T (PTPN22) | ENSP00000433141.1:n.*7-159C>T | |
| ENST00000469077.1:n.257-159C>T (PTPN22) | ||
| ENST00000528414.5:c.2195-159C>T (PTPN22) | ENSP00000435176.1:n.2195-159C>T | |
| ENST00000532224.5:c.*1638-159C>T (PTPN22) | ENSP00000431249.1:n.*1638-159C>T | |
| ENST00000538253.5:c.2288-159C>T (PTPN22) | ENSP00000439372.2:n.2288-159C>T | |
| NM_001193431.1:c.2276-159C>T (PTPN22) | NP_001180360.1:n.2276-159C>T | |
| NM_001193431.2:c.2276-159C>T (PTPN22) | NP_001180360.1:n.2276-159C>T | |
| NM_001308297.1:c.2288-159C>T (PTPN22) | NP_001295226.1:n.2288-159C>T | |
| NM_012411.4:c.2195-159C>T (PTPN22) | NP_036543.4:n.2195-159C>T | |
| NM_012411.5:c.2195-159C>T (PTPN22) | NP_036543.4:n.2195-159C>T | |
| NM_015967.5:c.2360-159C>T (PTPN22) | NP_057051.3:n.2360-159C>T | |
| NM_015967.6:c.2360-159C>T (PTPN22) | NP_057051.3:n.2360-159C>T | |
| NR_125965.1:n.320-250G>A (AP4B1-AS1) | ||
| XM_011541221.1:c.2282-159C>T (PTPN22) | XP_011539523.1:n.2282-159C>T | |
| XM_011541222.1:c.*7-159C>T (PTPN22) | XP_011539524.1:n.*7-159C>T | |
| XM_011541224.1:c.1916-159C>T (PTPN22) | XP_011539526.1:n.1916-159C>T | |
| XM_011541225.1:c.*7-159C>T (PTPN22) | XP_011539527.1:n.*7-159C>T | |
| XM_011541225.2:c.*7-159C>T (PTPN22) | XP_011539527.1:n.*7-159C>T | |
| XM_017001005.2:c.2015-159C>T (PTPN22) | XP_016856494.1:n.2015-159C>T | |
| NM_015967.7:c.2360-159C>T (PTPN22) | NP_057051.3:n.2360-159C>T | |
| NM_015967.8:c.2360-159C>T (PTPN22) MANE Select | NP_057051.4:n.2360-159C>T |