Canonical Allele Identifier: CA2696721523
Gene: PTPN22 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2101879714

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113821027A>G , CM000663.2:g.113821027A>G GRCh38
NC_000001.10:g.114363649A>G , CM000663.1:g.114363649A>G GRCh37
NC_000001.9:g.114165172A>G NCBI36
NG_011432.1:g.55727T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000359785.10:c.2282-1373T>C (PTPN22) MANE Select ENSP00000352833.5:n.2282-1373T>C
ENST00000359785.9:c.2282-1373T>C (PTPN22) ENSP00000352833.5:n.2282-1373T>C
ENST00000420377.6:c.2282-1373T>C (PTPN22) ENSP00000388229.2:n.2282-1373T>C
ENST00000460620.5:c.469-1373T>C (PTPN22) ENSP00000433141.1:n.469-1373T>C
ENST00000525799.1:c.1901-1373T>C (PTPN22) ENSP00000432674.1:n.1901-1373T>C
ENST00000528414.5:c.2117-1373T>C (PTPN22) ENSP00000435176.1:n.2117-1373T>C
ENST00000532224.5:c.*1560-1373T>C (PTPN22) ENSP00000431249.1:n.*1560-1373T>C
ENST00000538253.5:c.2210-1373T>C (PTPN22) ENSP00000439372.2:n.2210-1373T>C
NM_001193431.1:c.2198-1373T>C (PTPN22) NP_001180360.1:n.2198-1373T>C
NM_001193431.2:c.2198-1373T>C (PTPN22) NP_001180360.1:n.2198-1373T>C
NM_001308297.1:c.2210-1373T>C (PTPN22) NP_001295226.1:n.2210-1373T>C
NM_012411.4:c.2117-1373T>C (PTPN22) NP_036543.4:n.2117-1373T>C
NM_012411.5:c.2117-1373T>C (PTPN22) NP_036543.4:n.2117-1373T>C
NM_015967.5:c.2282-1373T>C (PTPN22) NP_057051.3:n.2282-1373T>C
NM_015967.6:c.2282-1373T>C (PTPN22) NP_057051.3:n.2282-1373T>C
NR_125965.1:n.414+5555A>G (AP4B1-AS1)
XM_011541221.1:c.2204-1373T>C (PTPN22) XP_011539523.1:n.2204-1373T>C
XM_011541222.1:c.2251-1373T>C (PTPN22) XP_011539524.1:n.2251-1373T>C
XM_011541224.1:c.1838-1373T>C (PTPN22) XP_011539526.1:n.1838-1373T>C
XM_011541225.1:c.2179-1373T>C (PTPN22) XP_011539527.1:n.2179-1373T>C
XM_011541225.2:c.2179-1373T>C (PTPN22) XP_011539527.1:n.2179-1373T>C
XM_017001005.2:c.1937-1373T>C (PTPN22) XP_016856494.1:n.1937-1373T>C
NM_015967.7:c.2282-1373T>C (PTPN22) NP_057051.3:n.2282-1373T>C
NM_015967.8:c.2282-1373T>C (PTPN22) MANE Select NP_057051.4:n.2282-1373T>C